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Col2a1M2J
Chemically induced Allele Detail
Nomenclature
Symbol: Col2a1M2J
Name: collagen, type II, alpha 1; mutation 2 Jackson
MGI ID: MGI:4999626
Synonyms: cleft
Gene: Col2a1  Location: Chr15:97975602-98004695 bp, - strand  Genetic Position: Chr15, 53.97 cM
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 has a G to A transition at Chromosome 15:97815207, which causes a premature stop codon at amino acid 645, and an A to T transversion at Chromosome 15:97825743, in intron 12 that could potentially act as a cryptic splice site but 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 structures
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:  20 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory