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Hexatm1Grv
Targeted Allele Detail
Nomenclature
Symbol: Hexatm1Grv
Name: hexosaminidase A; targeted mutation 1, Roy A Gravel
MGI ID: MGI:2429698
Synonyms: Hexa -
Gene: Hexa  Location: Chr9:59539545-59565109 bp, + strand  Genetic Position: Chr9, 32.02 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:30899
Parent Cell Line:  CGR8 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 11 was disrupted by the insertion of a neomycin selection cassette. Northern blot analysis of homozygous mutant mice showed an absence of normal transcript and the presence of an elongated transcript which contained neo sequence. Hydrolysis of 4-MUG-6-sulfate (MUGS) was reduced to less than 5% in homozygous mutant mice. (J:30899)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
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 Hexa Mutation:  13 strains or lines available
References
Original:  J:30899 Phaneuf D, et al., Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet. 1996 Jan;5(1):1-14
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/08/2018
MGI 6.12
The Jackson Laboratory