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Rhotm1.1Kpal
Targeted Allele Detail
Nomenclature
Symbol: Rhotm1.1Kpal
Name: rhodopsin; targeted mutation 1.1, Krzysztof Palczewski
MGI ID: MGI:4947230
Synonyms: RhoP23H
Gene: Rho  Location: Chr6:115908709-115916997 bp, + strand  Genetic Position: Chr6, 53.72 cM
Retinal degeneration in Rhotm1.1Kpal/Rho+ and Rhotm1.1Kpal/Rhotm1.1Kpal mice

Show the 5 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:170648
Parent Cell Line:  iTL1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsNucleotide substitution at codon 23 (CCC to CAC) resulted in the amino acid substitution of proline with histidine (p.Pro23His or p.P23H). An FRT-flanked neo cassette inserted downstream of exon 1 was removed by flp-mediated recombination. (J:170648)
Generation of the Rhotm1.1Kpal allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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 Rho Mutation:  37 strains or lines available
References
Original:  J:170648 Sakami S, et al., Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations. J Biol Chem. 2011 Mar 25;286(12):10551-67
All:  27 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
05/17/2022
MGI 6.19
The Jackson Laboratory