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| Nomenclature |
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Symbol:
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Aqp2cph
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Name:
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aquaporin 2;
congenital progressive hydronephrosis
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MGI ID: |
MGI:1856830 |
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Synonyms: |
cph, jpk |
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Gene:
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Aqp2
Location:
Chr15:99579056-99584545 bp, + strand
Genetic Position: Chr15,
56.13 cM
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Small size and congenital obstruction in Aqp2cph/Aqp2cph mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A mutation occurred in exon 4 converting the C at nucleotide 767 into a T resulting in a serine to leucine substitution. Apical accumulation of the protein is lost in the renal collecting ducts of homozygotes. (J:109463)
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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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Notes |
Phenotypic Similarity to Human Syndrome: Congenital Obstructive Nephropathy (J:109463)
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| References |
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Original: |
J:13746
Fox S et al.,
"Juvenile polycystic kidneys - jpk."
Mouse News Lett 1978;58():47
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All: |
3 reference(s)
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Analysis Tools
