|
|
| Nomenclature |
|
Symbol:
|
Hexbtm1Rlp
|
|
Name:
|
hexosaminidase B;
targeted mutation 1, Richard L Proia
|
|
MGI ID: |
MGI:1857438 |
|
Synonyms: |
Hexb-, Sandhoff hexb- |
|
Gene:
|
Hexb
Location:
Chr13:97176332-97198357 bp, - strand
Genetic Position: Chr13,
50.66 cM
|
|
Peripheral monocytes/macrophages are seen in the central nervous system of Hexbtm1Rlp/Hexbtm1Rlp mice
Show the 7 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 (knock-out) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: A 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
31 reference(s)
|
|
Analysis Tools
