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Ush1ctm1Bkts
Targeted Allele Detail
Summary
Symbol: Ush1ctm1Bkts
Name: USH1 protein network component harmonin; targeted mutation 1, Bronya Keats
MGI ID: MGI:3699259
Synonyms: 216AA, Ush1c216A, Ush1c216AA
Gene: Ush1c  Location: Chr7:45844774-45887927 bp, - strand  Genetic Position: Chr7, 29.66 cM, cytoband B3
Alliance: Ush1ctm1Bkts page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:118248
Parent Cell Line:  W4 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA targeting vector introduced the g216a nucleotide substitution to recreate a human cryptic splice site mutation found in Usher syndrome patients. (J:118248)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Ush1c Mutation:  50 strains or lines available
References
Original:  J:118248 Lentz J, et al., Ush1c216A knock-in mouse survives Katrina. Mutat Res. 2007 Mar 1;616(1-2):139-44
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory