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| Nomenclature |
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Symbol:
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Prpf31tm1Bha
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Name:
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PRP31 pre-mRNA processing factor 31 homolog (yeast);
targeted mutation 1, Shoumo Bhattacharya
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MGI ID: |
MGI:4438620 |
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Synonyms: |
Prpf31A216P |
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Gene:
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Prpf31
Location:
Chr7:3629985-3642486 bp, + strand
Genetic Position: Chr7,
2.09 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:158261
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Nucleotide substitutions (GCA to CCT) in a floxed exon 7 resulted in the amino acid substitution of proline for alanine at position 216 (A216P). (J:158261)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Prpf31 Mutation:
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8 strains or lines available |
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| References |
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Original: |
J:158261
Bujakowska K et al.,
"Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP)."
Invest Ophthalmol Vis Sci 2009 Dec;50(12):5927-33
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All: |
1 reference(s)
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Analysis Tools
