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| Nomenclature |
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Symbol:
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Pax21Neu
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Name:
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paired box gene 2;
Neuherberg 1
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MGI ID: |
MGI:1857114 |
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Synonyms: |
K289, Pax21Neu |
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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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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: An insertion of a single guanosine residue in the paired box region of the Pax2 gene, resulting in a frameshift mutation. (J:37055)
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Inheritance: | |
Semidominant |
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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:37055
Favor J et al.,
"The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney."
Proc Natl Acad Sci U S A 1996 Nov 26;93(24):13870-5
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All: |
11 reference(s)
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Analysis Tools
