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Targeted Allele Detail
Symbol: Whrntm1Tili
Name: whirlin; targeted mutation 1, Tiansen Li
MGI ID: MGI:4462398
Synonyms: Whrnneo
Gene: Whrn  Location: Chr4:63414910-63495991 bp, - strand  Genetic Position: Chr4, 33.97 cM, cytoband C1
Morphological defects around the periciliary membrane complex in Whrntm1Tili/Whrntm1Tili photoreceptors

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

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+
Allele Type:    Targeted (Modified isoform(s), Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsMost 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 Whrntm1Tili allele
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  33 strains or lines available
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:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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