Hexb<tm1Rlp> Targeted Allele Detail MGI Mouse (MGI:1857438)

Hexb^tm1Rlp
Targeted Allele Detail

Summary

Symbol:	Hexb^tm1Rlp
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:	Hexb^tm1Rlp page

Peripheral monocytes/macrophages are seen in the central nervous system of Hexb^tm1Rlp/Hexb^tm1Rlp 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 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 and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	114 assay results
In Structures Affected by this Mutation:	11 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)

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