Hexa<tm1Grv> Targeted Allele Detail MGI Mouse (MGI:2429698)

Hexa^tm1Grv
Targeted Allele Detail

Summary

Symbol:	Hexa^tm1Grv
Name:	hexosaminidase A; targeted mutation 1, Roy A Gravel
MGI ID:	MGI:2429698
Synonyms:	Hexa -
Gene:	Hexa Location: Chr9:59446966-59472392 bp, + strand Genetic Position: Chr9, 32.02 cM
Alliance:	Hexa^tm1Grv page

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 details: Exon 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	26 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:	12 reference(s)

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