Col2a1<M3J> Spontaneous Allele Detail MGI Mouse (MGI:5551861)

Col2a1^M3J
Spontaneous Allele Detail

Summary

Symbol:	Col2a1^M3J
Name:	collagen, type II, alpha 1; mutation 3 Jackson
MGI ID:	MGI:5551861
Gene:	Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
Alliance:	Col2a1^M3J page

Short snout in Col2a1^M2J/Col2a1⁺ mouse (right)

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

Mutation
origin

Strain of Origin:

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: This 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

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: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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