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| Nomenclature |
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Symbol:
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Npr2slw
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Name:
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natriuretic peptide receptor 2;
short-limbed dwarfism
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MGI ID: |
MGI:3774275 |
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Gene:
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Npr2
Location:
Chr4:43631935-43651244 bp, + strand
Genetic Position: Chr4,
23.05 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: | |
Intragenic deletion |
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Mutation details: A noncomplementation test with mice carrying the Npr2cn allele demonstrated that this mutation is an allele of Npr2. A 7-base deletion was identified in exon 8. The deletion caused a frameshift and the appearance of a premature termination codon at codon 513. (J:163374)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:129973
Sogawa C et al.,
"Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia."
J Hered 2007 Sep-Oct;98(6):575-80
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All: |
3 reference(s)
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Analysis Tools
