Whrn^tm1Tili
Targeted Allele Detail

Summary

• Symbol: Whrn^tm1Tili
• Name: whirlin; targeted mutation 1, Tiansen Li
• MGI ID: MGI:4462398
• Synonyms: Whrn^neo
• Gene: Whrn Location: Chr4:63333147-63414228 bp, - strand Genetic Position: Chr4, 33.97 cM, cytoband C1
• Alliance: Whrn^tm1Tili page

Morphological defects around the periciliary membrane complex in Whrn^tm1Tili/Whrn^tm1Tili photoreceptors

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160677
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted (Modified isoform(s), Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: Most of exon 1 was replaced with a neo cassette. The absence of long form protein expression was confirmed by western blot analysis on retina extracts. The short form is expressed. (J:160677)

Generation of the Whrn^tm1Tili allele

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Whrn Mutation: 46 strains or lines available

References

• Original: J:160677 Yang J, et al., Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet. 2010;6(5):e1000955
• All: 12 reference(s)