Tecta^tm1.1Ogha
Targeted Allele Detail

Summary

• Symbol: Tecta^tm1.1Ogha
• Name: tectorin alpha; targeted mutation 1.1, John Oghalai
• MGI ID: MGI:4458424
• Synonyms: Tecta^C1509G
• Gene: Tecta Location: Chr9:42240915-42311225 bp, - strand Genetic Position: Chr9, 23.63 cM
• Alliance: Tecta^tm1.1Ogha page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160851
• Parent Cell Line: AB2.1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 14 was replaced with a modified one in which nucleotide substitution (T to G) resulted in the amino acid substitution of cysteine with glycine at position 1509 (p.C1509G). This mutation was identified in human patients with autosomal dominant hearing loss. A second silent nucleotide substitution (C to A) at codon for amino acid 1510 was generated to assist in genotypying. An FRT site flanked neomycin resistance gene cassette was inserted into intron 13 and was removed through subsequent flp-mediated recombination. (J:160851)

Expression

In Structures Affected by this Mutation:

3 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 Tecta Mutation: 133 strains or lines available

References

• Original: J:160851 Xia A, et al., Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation. Dis Model Mech. 2010 Mar-Apr;3(3-4):209-23
• All: 4 reference(s)