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Hexbtm1Rlp
Targeted Allele Detail
Summary
Symbol: Hexbtm1Rlp
Name: hexosaminidase B; targeted mutation 1, Richard L Proia
MGI ID: MGI:1857438
Synonyms: Hexb-, Sandhoff hexb-
Gene: Hexb  Location: Chr13:97312839-97334865 bp, - strand  Genetic Position: Chr13, 50.66 cM
Alliance: Hexbtm1Rlp page
Peripheral monocytes/macrophages are seen in the central nervous system of Hexbtm1Rlp/Hexbtm1Rlp mice

Show the 10 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:29268
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA neomycin resistance cassette was inserted into and disrupted exon 13 of the gene. This mutation resulted in the production of no detectable functional protein. (J:29268)
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: 114 assay results
In Structures Affected by this Mutation: 10 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 Hexb Mutation:  91 strains or lines available
References
Original:  J:29268 Sango K, et al., Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet. 1995 Oct;11(2):170-6
All:  53 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
03/12/2024
MGI 6.23
The Jackson Laboratory