Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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 Alliance: Rhotm1.1Kpal page

Retinal degeneration in Rhotm1.1Kpal/Rho+ and Rhotm1.1Kpal/Rhotm1.1Kpal mice Show the 5 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:170648
Parent Cell Line:	iTL1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted Mutations:    Insertion, Single point mutation   Mutation details: Nucleotide 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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

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:	48 strains or lines available

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:	33 reference(s)