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

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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)