Herc1<tbl> Spontaneous Allele Detail MGI Mouse (MGI:3613033)

Herc1^tbl
Spontaneous Allele Detail

Summary

Symbol:	Herc1^tbl
Name:	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1; tambaleante
MGI ID:	MGI:3613033
Gene:	Herc1 Location: Chr9:66257732-66416057 bp, + strand Genetic Position: Chr9, 35.86 cM, cytoband D
Alliance:	Herc1^tbl page

Hind limbs clasping, impaired rotarod performance, and Purkinje cell degeneration in Herc1^tbl/Herc1^tbl mice

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

Mutation
origin

Strain of Origin:

DW/J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: This mutation was characterized to G-to-A transition at coding nucleotide 1313, causing a glycine to glutamic acid substitution (p.G438E) in the highly conserved N-terminal RCC1-like domain of the HERC1 protein. (J:161738)
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: 1 strain available Cell Lines: 0 lines available
Carrying any Herc1 Mutation:	209 strains or lines available

References

Original:	J:106414 Wassef M, et al., Cerebellar mutations affecting the postnatal survival of Purkinje cells in the mouse disclose a longitudinal pattern of differentially sensitive cells. Dev Biol. 1987 Dec;124(2):379-89
All:	5 reference(s)

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