Tecta^tm3.1Gpr
Targeted Allele Detail

Summary

• Symbol: Tecta^tm3.1Gpr
• Name: tectorin alpha; targeted mutation 3.1, Guy P Richardson
• MGI ID: MGI:5527094
• Synonyms: Tecta^C1619S
• Gene: Tecta Location: Chr9:42240915-42311225 bp, - strand Genetic Position: Chr9, 23.63 cM
• Alliance: Tecta^tm3.1Gpr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:203482
• Parent Cell Line: CCB (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 14 was replaced with one in which a point mutation (G to C) results in the amino acid substitution of cysteine with serine at position 1619 (p.C1619S). Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette that was also inserted. (J:203482)

Disease models

Expression

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Tecta Mutation: 133 strains or lines available

References

• Original: J:203482 Legan PK, et al., Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. Hum Mol Genet. 2014 May 15;23(10):2551-68
• All: 1 reference(s)