Clrn1^tm2.1Kuna
Targeted Allele Detail

Summary

• Symbol: Clrn1^tm2.1Kuna
• Name: clarin 1; targeted mutation 2.1, Kumar N Alagramam
• MGI ID: MGI:5432130
• Synonyms: Clrn1^N48K
• Gene: Clrn1 Location: Chr3:58751449-58792633 bp, - strand Genetic Position: Chr3, 28.78 cM
• Alliance: Clrn1^tm2.1Kuna page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186316
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 1 was replaced with one in which a point mutation (C to G) results in the amino acid substitution of lysine for asparagine (N48K). The floxed neo cassette inserted downstream of the modified exon 1 was removed by cre mediated recombination. (J:186316)

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 Clrn1 Mutation: 17 strains or lines available

References

• Original: J:186316 Geng R, et al., The Mechanosensory Structure of the Hair Cell Requires Clarin-1, a Protein Encoded by Usher Syndrome III Causative Gene. J Neurosci. 2012 Jul 11;32(28):9485-9498
• All: 4 reference(s)