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| Nomenclature |
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Symbol:
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Rhotm1.1Kpal
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Name:
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rhodopsin;
targeted mutation 1.1, Krzysztof Palczewski
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MGI ID: |
MGI:4947230 |
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Synonyms: |
RhoP23H |
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Gene:
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Rho
Location:
Chr6:115931927-115938829 bp, + strand
Genetic Position: Chr6,
53.72 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:170648
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Parent Cell Line:
| iTL1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Nucleotide substitution at codon 23 (CCC to CAC) resulted in the amino acid substitution of histidine for phenylalanine at position 23 (P23H). An FRT-flanked neo cassette inserted downstream of exon 1 was removed by flp-mediated recombination. (J:170648)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
