Prph2^tm1.1Naash
Targeted Allele Detail

Summary

• Symbol: Prph2^tm1.1Naash
• Name: peripherin 2; targeted mutation 1.1, Muna I Naash
• MGI ID: MGI:5818812
• Synonyms: Prph2^Kdelta
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^tm1.1Naash page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:237869
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intergenic deletion, Nucleotide substitutions
• 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)

Find Mice (IMSR)

• 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
• Carrying any Prph2 Mutation: 26 strains or lines available

References

• 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)