Type |
Details |
Score |
Strain |
Attribute String: |
targeted mutation |
|
•
•
•
•
•
|
Allele |
Name: |
LMBR1 domain containing 1; targeted mutation 1.1, National Taiwan University College of Medicine Laboratory Animal Center |
Allele Type: |
Targeted |
|
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Lmbrd1/Lmbrd1 |
Background: |
C57BL/6N-Lmbrd1/Tcp |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Lmbrd1/Lmbrd1<+> |
Background: |
involves: 129 * BALB/c * C57BL/6J |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
replicated anterior zeugopod, inversion |
Allele Type: |
Radiation induced |
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Lmbrd1/Lmbrd1<+> |
Background: |
C57BL/6N-Lmbrd1/Tcp |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, mutant stock |
|
•
•
•
•
•
|
Strain |
Attribute String: |
congenic, chromosome aberration, inversion, mutant strain, radiation induced mutation |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 118; endonuclease-mediated mutation 1, Douglas J Epstein |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 112510; endonuclease-mediated mutation 1, Guillaume Andrey |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 112507; endonuclease-mediated mutation 1, Guillaume Andrey |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Raz/Raz |
Background: |
C3.D2-Raz |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Raz/Raz<+> |
Background: |
C3.D2-Raz |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Lmbrd1/Lmbrd1<+> |
Background: |
B6.Cg-Lmbrd1 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Allele |
Name: |
deletion, Chr5, Douglas J Epstein 1; deletion, Chr 5, Douglas J Epstein 1 |
Allele Type: |
Targeted |
Attribute String: |
Modified regulatory region, Null/knockout |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 112510; endonuclease-mediated mutation 2, Guillaume Andrey |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
deletion, Chr 5, Guillaume Andrey 6 |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
161
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Rutsch F |
Year: |
2009 |
Journal: |
Nat Genet |
Title: |
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. |
Volume: |
41 |
Issue: |
2 |
Pages: |
234-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Deme JC |
Year: |
2014 |
Journal: |
Mol Membr Biol |
Title: |
Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4. |
Volume: |
31 |
Issue: |
7-8 |
Pages: |
250-61 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
This group of proteins have a conserved C-terminal region which is found in LMBR1 and in the lipocalin-1 receptor. LMBR1 was thought to play a role in preaxial polydactyly, but recent evidence now suggests this not to be the case []. Vertebrate members of this family may play a role in limb development []. Lysosomal cobalamin transport escort protein LMBD1 is a lysosomal membrane chaperone required to export cobalamin from lysosome to the cytosol, allowing its conversion to cofactors [, ]. This protein showed homology to the lipocalin membrane receptor (LIMR) []. |
|
•
•
•
•
•
|
Allele |
Name: |
regulatory region 29; endonuclease-mediated mutation 2, Guillaume Andrey |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Modified regulatory region |
|
•
•
•
•
•
|
Allele |
Name: |
sasquatch |
Allele Type: |
Transgenic |
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rr117/Rr117 Rr118/Rr118 |
Background: |
involves: 129S1/Sv * 129X1/SvJ |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rr117/Rr117<+> Rr118/Rr118<+> |
Background: |
involves: 129S1/Sv * 129X1/SvJ |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Mohammed Y |
Year: |
2021 |
Journal: |
NPJ Syst Biol Appl |
Title: |
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. |
Volume: |
7 |
Issue: |
1 |
Pages: |
25 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
490
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
489
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
313
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
367
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
110
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
462
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Wojnar P |
Year: |
2001 |
Journal: |
J Biol Chem |
Title: |
Molecular cloning of a novel lipocalin-1 interacting human cell membrane receptor using phage display. |
Volume: |
276 |
Issue: |
23 |
Pages: |
20206-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Itasaki N |
Year: |
1996 |
Journal: |
Neuron |
Title: |
Reprogramming Hox expression in the vertebrate hindbrain: influence of paraxial mesoderm and rhombomere transposition. |
Volume: |
16 |
Issue: |
3 |
Pages: |
487-500 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sharpe J |
Year: |
1999 |
Journal: |
Curr Biol |
Title: |
Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. |
Volume: |
9 |
Issue: |
2 |
Pages: |
97-100 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ssq/? |
Background: |
involves: C57BL/6 * C57BL/10 * CBA |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Ssq/Ssq |
Background: |
involves: C57BL/6 * C57BL/10 * CBA |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Yook C |
Year: |
2019 |
Journal: |
Front Mol Neurosci |
Title: |
A TBR1-K228E Mutation Induces Tbr1 Upregulation, Altered Cortical Distribution of Interneurons, Increased Inhibitory Synaptic Transmission, and Autistic-Like Behavioral Deficits in Mice. |
Volume: |
12 |
|
Pages: |
241 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Dutchak PA |
Year: |
2015 |
Journal: |
Cell Rep |
Title: |
Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2. |
Volume: |
12 |
Issue: |
3 |
Pages: |
371-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Imbard A |
Year: |
2021 |
Journal: |
Sci Rep |
Title: |
Liver and brain differential expression of one-carbon metabolism genes during ontogenesis. |
Volume: |
11 |
Issue: |
1 |
Pages: |
21132 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yao Y |
Year: |
2016 |
Journal: |
Nat Genet |
Title: |
Cis-regulatory architecture of a brain signaling center predates the origin of chordates. |
Volume: |
48 |
Issue: |
5 |
Pages: |
575-80 |
|
•
•
•
•
•
|
Publication |
First Author: |
Harke J |
Year: |
2024 |
Journal: |
Mol Cell |
Title: |
Multiple allelic configurations govern long-range Shh enhancer-promoter communication in the embryonic forebrain. |
Volume: |
84 |
Issue: |
24 |
Pages: |
4698-4710.e6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Toronto Centre for Phenogenomics |
Year: |
2013 |
Journal: |
MGI Direct Data Submission |
Title: |
Strains and alleles submitted by Toronto Centre for Phenogenomics (NorCOMM2, funded by Genome Canada and Ontario Genomics Institute OGI-051). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hald J |
Year: |
2012 |
Journal: |
Diabetologia |
Title: |
Pancreatic islet and progenitor cell surface markers with cell sorting potential. |
Volume: |
55 |
Issue: |
1 |
Pages: |
154-65 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dickinson ME |
Year: |
2016 |
Journal: |
Nature |
Title: |
High-throughput discovery of novel developmental phenotypes. |
Volume: |
537 |
Issue: |
7621 |
Pages: |
508-514 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2018 |
Journal: |
Database Release |
Title: |
MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
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: |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bedogni F |
Year: |
2021 |
Journal: |
Front Mol Neurosci |
Title: |
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. |
Volume: |
14 |
|
Pages: |
686034 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Magdaleno S |
Year: |
2006 |
Journal: |
PLoS Biol |
Title: |
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. |
Volume: |
4 |
Issue: |
4 |
Pages: |
e86 |
|
•
•
•
•
•
|
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|