| Type |
Details |
Score |
| GXD Expression |
| Probe: |
MGI:4423308 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2018-03-27 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3267422 |
| Pattern: |
Regionally restricted |
| Stage: |
TS22 |
| Assay Id: |
MGI:6147577 |
| Age: |
embryonic day 14.5 |
| Image: |
4A |
| Note: |
Expression caudal and ventral ependymal cell layers. |
| Specimen Label: |
4A |
| 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: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 |
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Solomon GM |
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2017 |
| Journal: |
JCI Insight |
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Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. |
| Volume: |
2 |
| Issue: |
5 |
| Pages: |
e91702 |
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•
•
•
•
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Stottmann RW |
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Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. |
| Volume: |
188 |
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615-24 |
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•
•
•
•
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Hum Mol Genet |
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Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. |
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25 |
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14 |
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•
•
•
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Nature |
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•
•
•
•
•
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Lo C |
| Year: |
2011 |
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MGI Direct Data Submission (B2B/CvDC) |
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Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC) |
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JAX BSS Panel Mapping Data |
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Mouse Genome Informatics Scientific Curators |
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Gene Ontology Annotation by the MGI Curatorial Staff |
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Mouse Genome Informatics Scientific Curators |
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Function or Process or Component Unknown following Literature Review |
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The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
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•
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Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
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International Knockout Mouse Consortium |
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2014 |
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Database Download |
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MGI download of modified allele data from IKMC and creation of new knockout alleles |
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WashU-HHMI Mouse EST Project |
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International Mouse Strain Resource |
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2014 |
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MGI download of germline transmission data for alleles from IMSR strain data |
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Wellcome Trust Sanger Institute |
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2009 |
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MGI Direct Data Submission |
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Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
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Shanghai Model Organisms Center |
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MGI Direct Data Submission |
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Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
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Genetic determinants of micronucleus formation in vivo. |
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MGD Nomenclature Committee |
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2011 |
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Mouse Genome Informatics Scientific Curators |
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2005 |
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Mouse Genome Informatics |
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2010 |
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Database Release |
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Protein Ontology Association Load. |
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•
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Mouse Genome Informatics Scientific Curators |
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2005 |
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Mouse Genome Informatics Scientific Curators |
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2009 |
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Database Download |
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Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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|
|
•
•
•
•
•
|
| 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: |
Mutant line 2025; Bench to Bassinet Program (B2B/CVDC), mutation 2025 Cecilia Lo |
| Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
| Allele |
| Name: |
coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC) mutation 2025, subline 1, 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) |
|
|
•
•
•
•
•
|
| Allele |
| Name: |
coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC) mutation 1735, Cecilia Lo |
| Allele Type: |
Chemically induced (ENU) |
|
|
•
•
•
•
•
|
| Heritable Phenotypic Marker |
| Type: |
heritable_phenotypic_marker |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| 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 []. |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Ccdc39/Ccdc39 |
| Background: |
C57BL/6J-Ccdc39 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Ccdc39/Ccdc39 |
| Background: |
C57BL/6J-Ccdc39 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|