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| Nomenclature |
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Symbol:
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Pax2M1Bpb
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Name:
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paired box gene 2;
mutation 1, Brian P Brooks
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MGI ID: |
MGI:4442602 |
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Synonyms: |
Pax2A220G, Pax2 (p.T74A) |
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Gene:
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Pax2
Location:
Chr19:44756049-44838268 bp, + strand
Genetic Position: Chr19,
38.09 cM
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Ocular abnormalities in Pax2M1Bpb/Pax2+ mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: ENU mutagenesis induced an A to G transition at position 220 (no source sequence accession number provided) resulting in the amino acid subsitution of alanine for threonine at position 74 (T74A). Reduced steady-state protein levels were confirmed by western blot analysis on embryo extracts. (J:159240)
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Inheritance: | |
Dominant |
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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 Pax2 Mutation:
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17 strains or lines available |
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| References |
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Original: |
J:159240
Alur RP et al.,
"Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human."
PLoS Genet 2010;6(3):e1000870
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All: |
2 reference(s)
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Analysis Tools
