Dnah11<avc4> Chemically induced Allele Detail MGI Mouse (MGI:4821828)

Dnah11^avc4
Chemically induced Allele Detail

Summary

Symbol:	Dnah11^avc4
Name:	dynein, axonemal, heavy chain 11; atrioventricular canal 4
MGI ID:	MGI:4821828
Gene:	Dnah11 Location: Chr12:117841717-118162778 bp, - strand Genetic Position: Chr12, 63.25 cM
Alliance:	Dnah11^avc4 page

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:		Chemically induced (ENU) (Null/knockout)
Mutation:		Single point mutation
		Mutation details: The causative mutation is a T-to-C missense mutation, a transition at g.117931223. The T-to-C transition resulted in a non-conservative amino acid change, p.Ser3630Pro, located in a highly conserved ATP-binding dynein motor region D5 of the encoded protein. (J:237132)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available Cell Lines: 0 lines available
Carrying any Dnah11 Mutation:	217 strains or lines available

References

Original:	J:163196 Kamp A, et al., Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010 Aug 15;19(16):3105-13
All:	2 reference(s)

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