Col4a1<ENU6009> Chemically induced Allele Detail MGI Mouse (MGI:4822158)

Col4a1^ENU6009
Chemically induced Allele Detail

Summary

Symbol:	Col4a1^ENU6009
Name:	collagen, type IV, alpha 1; ENU mutation 6009
MGI ID:	MGI:4822158
Gene:	Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
Alliance:	Col4a1^ENU6009 page

Mutation
origin

Strain of Origin:

C3H/HeJ

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: This mutation is a T to C nucleotide substitution at position 4875 (NCBI accession # NM_009931) and a serine to proline substitution at amino acid residue 1582. (J:163225)
Inheritance:		Dominant

Phenotypes

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

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 Col4a1 Mutation:	78 strains or lines available

References

Original:	J:163225 Favor J, et al., Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification ofthe first two Col4a2 mutant alleles. Genetics. 2007 Feb;175(2):725-36
All:	2 reference(s)

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