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Hexatm1Rlp
Targeted Allele Detail
Summary
Symbol: Hexatm1Rlp
Name: hexosaminidase A; targeted mutation 1, Richard L Proia
MGI ID: MGI:1857181
Synonyms: Hexa-, Tay-Sachs, Tay-Sachs hexa-
Gene: Hexa  Location: Chr9:59446966-59472392 bp, + strand  Genetic Position: Chr9, 32.02 cM
Alliance: Hexatm1Rlp page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:21008
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation details: A neomycin resistance cassette was inserted into and disrupted exon 8 of the gene. Northern blots of liver homogenates from homozygous mutant mice showed no detectable transcript. This mutation resulted in the production of no detectable functional protein. (J:21008)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 2 assay results
In Structures Affected by this Mutation: 1 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 Hexa Mutation:  26 strains or lines available
References
Original:  J:21008 Yamanaka S, et al., Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci U S A. 1994 Oct 11;91(21):9975-9
All:  12 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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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory