Htt^tm1Hay
Targeted Allele Detail

Summary

• Symbol: Htt^tm1Hay
• Name: huntingtin; targeted mutation 1, Michael Hayden
• MGI ID: MGI:2177743
• Synonyms: Hdh^ex5
• Gene: Htt Location: Chr5:34919084-35069878 bp, + strand Genetic Position: Chr5, 17.92 cM
• Alliance: Htt^tm1Hay page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:25941
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A PGK-neomycin selection cassette replaced part of intron 4 and part of exon 5. RT-PCR analysis on RNA derived from brain of homozygous mice demonstrated that the mutation resulted in the production of a transcript that lacked exon 5 sequences, resulting in a frameshift that introduced a stop codon downstream of the mutation. Western blot analysis on brain lysates from heterozygous mice revealed that a smaller protein of approximately 20 kDa may be produced from this allele. (J:25941)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Htt Mutation: 178 strains or lines available

References

• Original: J:25941 Nasir J, et al., Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell. 1995 Jun 2;81(5):811-23
• All: 14 reference(s)