Hexa<tm1Cota> Targeted Allele Detail MGI Mouse (MGI:3581540)

About Help FAQ

Hexa^tm1Cota
Targeted Allele Detail

Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Summary

Symbol:	Hexa^tm1Cota
Name:	hexosaminidase A; targeted mutation 1, Michel Cohen-Tannoudji
MGI ID:	MGI:3581540
Synonyms:	Hexa^-
Gene:	Hexa Location: Chr9:59446966-59472392 bp, + strand Genetic Position: Chr9, 32.02 cM
Alliance:	Hexa^tm1Cota page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:30435
Parent Cell Line:	CK35 (ES Cell)
Strain of Origin:	129S2/SvPas

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutation:		Insertion
		Mutation details: A neomycin resistance cassette was inserted in exon 8. Northern blot analysis and RT-PCR indicated the complete absence of normal gene procuct. HEX A activity was reduced to less than 1% of normal. (J:30435)

Phenotypes

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

Disease models

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:30435 Cohen-Tannoudji M, et al., Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Mamm Genome. 1995 Dec;6(12):844-9
All:	2 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24