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Col2a1M3J
Spontaneous Allele Detail
Nomenclature
Symbol: Col2a1M3J
Name: collagen, type II, alpha 1; mutation 3 Jackson
MGI ID: MGI:5551861
Gene: Col2a1  Location: Chr15:97975602-98004695 bp, - strand  Genetic Position: Chr15, 53.97 cM
Short snout in Col2a1M2J/Col2a1+ mouse (right)

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

Mutation
origin
Strain of Origin:  C57BL/6J-KitW-v/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis spontaneous C-to-A mutation (G-to-T on negative gene strand) at chromosome 15 position 97,986,841 (GRCm38) is located within the CAG spice acceptor site adjacent to exon 26, changing it to CAT, which is predicted to interfere with normal splicing. (J:206718, J:222308, J:223062)
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: 1 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:206718 Curtain MM, et al., A new, spontaneous short nose mutation in the mouse collagen type 2 alpha 1 gene. MGI Direct Data Submission. 2014;
All:  3 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
05/26/2020
MGI 6.15
The Jackson Laboratory