These mice carry the P23H mutation of the Rho (rhodopsin) gene and exhibit progressive retinal degeneration observed in patients with autosomal dominant retinitis pigmentosa.
Krzysztof Palczewski, Case Western Reserve University
These mice carry a nucleotide substitution at codon 23, CCC to CAC, encoding the amino acid substitution of histidine for phenylalanine at position 23, P23H. The P23H mutation is oneof the most common causes of autosomal dominant retinitis pigmentosa. Mice that are homozygous for the targeted mutation are viable and fertile. Both the mutant and wildtype gene product (mRNA) is detected by cDNA sequencing chromatogram. The phenotype in heterozygous mice mimics the retinopathy and progressive retinal degeneration observed in patients with autosomal dominant retinitis pigmentosa caused by the P23H mutation. By 35 days of age, heterozygotes have a shorter rod outer segment when compared to controls. At post natal day 63, heterozygotes have fewer rod nuclei (half the number observed in wildtype mice), and decreased length of the rod outer segment. Homozygous mice exhibit a more severe phenotype with thinner outer nuclear layer, severe photoreceptor degeneration by post natal day 23 and loss of almost all photoreceptor cells by post natal day 63. Glycosylation of the mutant P23H protein is severely diminished.
A targeting vector containing a FRT and loxP site flanked NEO cassette was used to insert the nucleotide substitution at codon 23, CCC to CAC, encoding the point mutation P23H. The construct was electroporated into 129S6/SvEvTac derived iTL1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric animals were crossed generate homozygotes. The mice were crossed to transgenic mice (on the B6.FVB genetic background) expressing Cre recombinase under the control of the adenovirus EIIa promoter (Stock No. 003724) to remove the NEO selection cassette. The mice were backcrossed to C57BL/6 for 6 generations and no longer contain the Cre recombinase transgene. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.
|Allele Name||targeted mutation 1.1, Krzysztof Palczewski|
|Gene Symbol and Name||Rho, rhodopsin|
|Gene Synonym(s)||CSNBAD1; L opsin; LWS opsin; Long Wavelength Sensitive opsin; MGC:21585; MGC:25387; Noerg1; Noerg1; OPN2; Opn2; Ops; Ops; RP4; Red Opsin; Rod Opsin; no electroretinogram 1; opsin 2|
|Promoter||Rho, rhodopsin, mouse, laboratory|
|Strain of Origin||129S6/SvEvTac|
|Molecular Note||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.|
|Mutations Made By|| |
Krzysztof Palczewski, Case Western Reserve University
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