Hexa^tm1Cota
Targeted Allele Detail

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)

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)