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Col2a1M2J
Chemically induced Allele Detail
Summary
Symbol: Col2a1M2J
Name: collagen, type II, alpha 1; mutation 2 Jackson
MGI ID: MGI:4999626
Synonyms: cleft
Gene: Col2a1  Location: Chr15:97873483-97902525 bp, - strand  Genetic Position: Chr15, 53.97 cM
Alliance: Col2a1M2J page
A Col2a1M2J/Col2a1+ mutant (left) and littermate control (right)

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis ENU induced mutation is a G-to-A transition at chromosome 15:97,984,776 (GRCm38), which causes a premature stop codon at amino acid 645, and an A-to-T transversion at chromosome 15:97,825,743, in intron 12 that could potentially act as a cryptic splice acceptor site, though RT-PCR did not reveal splicing abnormalities. (J:176116, J:222308)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Col2a1 Mutation:  68 strains or lines available
References
Original:  J:176116 Fairfield H, et al., Mutation discovery in mice by whole exome sequencing. Genome Biol. 2011 Sep 14;12(9):R86
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory