Afg3l2<par> Spontaneous Allele Detail MGI Mouse (MGI:1856984)

Afg3l2^par
Spontaneous Allele Detail

Summary

Symbol:	Afg3l2^par
Name:	AFG3-like AAA ATPase 2; paralyse
MGI ID:	MGI:1856984
Gene:	Afg3l2 Location: Chr18:67537834-67582242 bp, - strand Genetic Position: Chr18, 39.96 cM
Alliance:	Afg3l2^par page

Mutation
origin

Strain of Origin:

random-bred

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A C-to-G transversion and missense mutation in exon 10 of the gene is predicted to lead to an arginine to glycine substitution at residue 389, in the conserved AAA domain of the encoded protein. (J:132285)
Inheritance:		Recessive

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: 0 strains available Cell Lines: 0 lines available
Carrying any Afg3l2 Mutation:	69 strains or lines available

References

Original:	J:13950 Duchen LW, et al., A new mutant, paralyse. Mouse News Lett. 1983;69:34
All:	5 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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