Hap1^tm1Xjl
Targeted Allele Detail

Summary

• Symbol: Hap1^tm1Xjl
• Name: huntingtin-associated protein 1; targeted mutation 1, Xiao-Jiang Li
• MGI ID: MGI:2670598
• Synonyms: HAP1-
• Gene: Hap1 Location: Chr11:100238153-100246954 bp, - strand Genetic Position: Chr11, 63.47 cM, cytoband D
• Alliance: Hap1^tm1Xjl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:84682
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 1 and 2, which encode the first 131 amino acids, were replaced with a neomycin selection cassette. Protein was undetected in the brains of homozygous mutant mice by Western blot analysis. (J:84682)

Disease models

Expression

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Hap1 Mutation: 37 strains or lines available

References

• Original: J:84682 Li SH, et al., Lack of huntingtin-associated protein-1 causes neuronal death resembling hypothalamic degeneration in Huntington's disease. J Neurosci. 2003 Jul 30;23(17):6956-64
• All: 14 reference(s)