Prph2tm1.1Naash
Targeted Allele Detail
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Symbol: |
Prph2tm1.1Naash |
Name: |
peripherin 2; targeted mutation 1.1, Muna I Naash |
MGI ID: |
MGI:5818812 |
Synonyms: |
Prph2Kdelta |
Gene: |
Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
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Alliance: |
Prph2tm1.1Naash page
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Germline Transmission: |
Earliest citation of germline transmission:
J:237869
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
Not Specified
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Intergenic deletion, Nucleotide substitutions
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Mutation details: An FRT site and loxP site flanked neomycin resistance gene cassette was inserted into intron 1 and exon 1 was replaced with a version with two engineered mutations: a silent TTC>TTT mutation to aid genotyping and an AAA deletion to create an allele coding for a peptide with a K153 deletion. This deletion emulates one causing variable retinal phenotypes in human patients. The neo cassette was removed through flp-mediated recombination.
(J:237869)
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Prph2 Mutation: |
27 strains or lines available
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Original: |
J:237869 Chakraborty D, et al., The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function. Hum Mol Genet. 2016 Aug 15;25(16):3500-3514 |
All: |
4 reference(s) |
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