Col2a1<M2J> Chemically induced Allele Detail MGI Mouse (MGI:4999626)

Col2a1^M2J
Chemically induced Allele Detail

Summary

Symbol:	Col2a1^M2J
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:	Col2a1^M2J page

A Col2a1^M2J/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 details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	69 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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