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Targeted Allele Detail
Symbol: Htttm1Hay
Name: huntingtin; targeted mutation 1, Michael Hayden
MGI ID: MGI:2177743
Synonyms: Hdhex5
Gene: Htt  Location: Chr5:34761740-34912534 bp, + strand  Genetic Position: Chr5, 17.92 cM
Germline Transmission:  Earliest citation of germline transmission: J:25941
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
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:  29 strains or lines available
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:  11 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
MGI 6.16
The Jackson Laboratory