Hexa^tm1Rlp
Targeted Allele Detail

Summary

• Symbol: Hexa^tm1Rlp
• Name: hexosaminidase A; targeted mutation 1, Richard L Proia
• MGI ID: MGI:1857181
• Synonyms: Hexa^-, Tay-Sachs, Tay-Sachs hexa^-
• Gene: Hexa Location: Chr9:59446966-59472392 bp, + strand Genetic Position: Chr9, 32.02 cM
• Alliance: Hexa^tm1Rlp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:21008
• 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 8 of the gene. Northern blots of liver homogenates from homozygous mutant mice showed no detectable transcript. This mutation resulted in the production of no detectable functional protein. (J:21008)

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	1 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 Hexa Mutation: 26 strains or lines available

References

• Original: J:21008 Yamanaka S, et al., Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci U S A. 1994 Oct 11;91(21):9975-9
• All: 11 reference(s)