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Herc1tbl
Spontaneous Allele Detail
Nomenclature
Symbol: Herc1tbl
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
Hind limbs clasping, impaired rotarod performance, and Purkinje cell degeneration in Herc1tbl/Herc1tbl 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 detailsThis 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
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  131 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)

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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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory