Prph2tm1.1Itl
Targeted Allele Detail
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| Symbol: |
Prph2tm1.1Itl |
| Name: |
peripherin 2; targeted mutation 1.1, inGenious Targeting Laboratory |
| MGI ID: |
MGI:6367794 |
| Synonyms: |
Prph2Y, Y141C-RDS |
| Gene: |
Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
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| Alliance: |
Prph2tm1.1Itl page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:215646
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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 (Dominant negative) |
| Mutations: |
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Insertion, Single point mutation
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Mutation details: Two point mutations were introduced to exon 1 of the gene. The first was a silent C>G, to eliminate a Hinf1 restriction site to aid in genotyping, and the second was the pathogenic A>G, to introduce the p.Y141C substitution in the encoded protein. An frt site flanked neomycin selection cassette was removed via Flp-mediated recombination.
(J:215646)
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| Inheritance: |
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Dominant |
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View phenotypes and curated references for all genotypes (concatenated display).
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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: |
28 strains or lines available
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| Original: |
J:215646 Stuck MW, et al., The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. Hum Mol Genet. 2014 Dec 1;23(23):6260-74 |
| All: |
7 reference(s) |
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Analysis Tools
