Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:6147541 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2018-03-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274226 |
Pattern: |
Not Specified |
Stage: |
TS26 |
Assay Id: |
MGI:6147580 |
Age: |
embryonic day 18.5 |
Image: |
S3B bottom right |
|
Specimen Label: |
S3B bottom right |
Detected: |
true |
Specimen Num: |
26 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4423308 |
Assay Type: |
RNA in situ |
Annotation Date: |
2018-03-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3274222 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:6147577 |
Age: |
embryonic day 14.5 |
Image: |
4A |
|
Specimen Label: |
4A |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1929028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875991 |
|
Specimen Label: |
UC Davis_1875991 |
Detected: |
true |
Specimen Num: |
18 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1929028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875992 |
|
Specimen Label: |
UC Davis_1875992 |
Detected: |
true |
Specimen Num: |
19 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:3276428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875997 |
|
Specimen Label: |
UC Davis_1875997 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:3276428 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875982 |
|
Specimen Label: |
UC Davis_1875982 |
Detected: |
true |
Specimen Num: |
12 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Female |
Emaps: |
EMAPS:1757728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875998 |
|
Specimen Label: |
UC Davis_1875998 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1757728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875983 |
|
Specimen Label: |
UC Davis_1875983 |
Detected: |
true |
Specimen Num: |
13 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1757728 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6691312 |
Age: |
postnatal adult |
Image: |
UC Davis_1875984 |
|
Specimen Label: |
UC Davis_1875984 |
Detected: |
true |
Specimen Num: |
14 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6147541 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2018-03-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689422 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:6147580 |
Age: |
embryonic day 14.5 |
Image: |
4D |
|
Specimen Label: |
4D |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6147541 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2018-03-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689422 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:6147580 |
Age: |
embryonic day 14.5 |
Image: |
4E |
|
Specimen Label: |
4E |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6147541 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2018-03-27 |
Strength: |
Ambiguous |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689422 |
Pattern: |
Not Specified |
Stage: |
TS22 |
Assay Id: |
MGI:6147580 |
Age: |
embryonic day 14.5 |
Image: |
4F |
Note: |
Authors report loss of expression - reduced to nearly undetectable levels - in mutant brains. |
Specimen Label: |
4F |
|
Specimen Num: |
3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Solomon GM |
Year: |
2017 |
Journal: |
JCI Insight |
Title: |
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. |
Volume: |
2 |
Issue: |
5 |
Pages: |
e91702 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stottmann RW |
Year: |
2011 |
Journal: |
Genetics |
Title: |
Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. |
Volume: |
188 |
Issue: |
3 |
Pages: |
615-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Burnicka-Turek O |
Year: |
2016 |
Journal: |
Hum Mol Genet |
Title: |
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. |
Volume: |
25 |
Issue: |
14 |
Pages: |
3011-3028 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li Y |
Year: |
2015 |
Journal: |
Nature |
Title: |
Global genetic analysis in mice unveils central role for cilia in congenital heart disease. |
Volume: |
521 |
Issue: |
7553 |
Pages: |
520-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lo C |
Year: |
2011 |
Journal: |
MGI Direct Data Submission (B2B/CvDC) |
Title: |
Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Backcross DNA Panel Mapping Resource |
Year: |
1999 |
Journal: |
Database Release |
Title: |
JAX BSS Panel Mapping Data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ko MS |
Year: |
2000 |
Journal: |
Development |
Title: |
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. |
Volume: |
127 |
Issue: |
8 |
Pages: |
1737-49 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
|
Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Lennon G |
Year: |
1999 |
Journal: |
Database Download |
Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
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•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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Title: |
GemPharmatech Website. |
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•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
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|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
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|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
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|
•
•
•
•
•
|
Publication |
First Author: |
Diez-Roux G |
Year: |
2011 |
Journal: |
PLoS Biol |
Title: |
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
Volume: |
9 |
Issue: |
1 |
Pages: |
e1000582 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6147547 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2018-03-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3267424 |
Pattern: |
Regionally restricted |
Stage: |
TS24 |
Assay Id: |
MGI:6147583 |
Age: |
embryonic day 16.5 |
Image: |
4G E16.5 FOXJ1 |
Note: |
Co-expression with Ccdc39 in ependhymal cells on ventromedial walls as early as E16. |
Specimen Label: |
4G E16.5 FOXJ1 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6147547 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2018-03-27 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3786527 |
Pattern: |
Regionally restricted |
Stage: |
TS27 |
Assay Id: |
MGI:6147583 |
Age: |
postnatal day 0 |
Image: |
4G P0 FOXJ1 |
Note: |
Co-expression with Ccdc39 in ependhymal cells on ventromedial walls continues through P0. |
Specimen Label: |
4G P0 FOXJ1 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
Allele |
Name: |
coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC) mutation 2025, subline 1, Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Allele |
Name: |
Mutant line 2025; Bench to Bassinet Program (B2B/CVDC), mutation 2025 Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Allele |
Name: |
coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CvDC) mutation 1304, Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Heritable Phenotypic Marker |
Type: |
heritable_phenotypic_marker |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Allele |
Name: |
coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC) mutation 1735, Cecilia Lo |
Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ccdc39/Ccdc39 |
Background: |
C57BL/6J-Ccdc39 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
b2b2025Clo/b2b2025Clo |
Background: |
C57BL/6J-b2b2025Clo |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1192
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1262
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
186
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Becker-Heck A |
Year: |
2011 |
Journal: |
Nat Genet |
Title: |
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. |
Volume: |
43 |
Issue: |
1 |
Pages: |
79-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sugrue KF |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
Mechanism for generation of left isomerism in Ccdc40 mutant embryos. |
Volume: |
12 |
Issue: |
2 |
Pages: |
e0171180 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sui W |
Year: |
2016 |
Journal: |
Clin Respir J |
Title: |
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. |
Volume: |
10 |
Issue: |
5 |
Pages: |
614-21 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Coiled-coil domain containing protein 40 (CCDC40) plays an evolutionary conserved role in the assembly of motile cilia and establishment of the left-right axis [, ]. CCDC40 may serve as a part of the axoneme structural scaffold. It has been shown to be required for axonemal recruitment of CCDC39 []. CCDC40 mutation is a cause of primary ciliary dyskinesia []. |
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Genotype |
Symbol: |
Ccdc39/Ccdc39 |
Background: |
C57BL/6J-Ccdc39 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Ccdc39/Ccdc39 |
Background: |
C57BL/6J-Ccdc39 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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