Col1a1^Aga2
Chemically induced Allele Detail

Summary

• Symbol: Col1a1^Aga2
• Name: collagen, type I, alpha 1; abnormal gait 2
• MGI ID: MGI:3769585
• Synonyms: Aga2, Aga2^mild, Aga2^severe, Col1a1^M1Tliss
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^Aga2 page

Col1a1^Aga2/Col1a⁺ mice display skeletal and growth abnormalities

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was identified in the Munich ENU dominant mutagenesis screen. A T to A transverion was identified within intron 50, generating a novel 3' splice acceptor site. The mutation results in a 16 base expansion of the transcript. (J:129569)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	19 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 Col1a1 Mutation: 163 strains or lines available

References

• Original: J:129569 Lisse TS, et al., ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet. 2008 Feb;4(2):e7
• All: 4 reference(s)