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Aqp2cph
Spontaneous Allele Detail
Nomenclature
Symbol: Aqp2cph
Name: aquaporin 2; congenital progressive hydronephrosis
MGI ID: MGI:1856830
Synonyms: cph, jpk
Gene: Aqp2  Location: Chr15:99579056-99584545 bp, + strand  Genetic Position: Chr15, 56.13 cM
Small size and congenital obstruction in Aqp2cph/Aqp2cph mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA mutation occurred in exon 4 converting the C at coding nucleotide 767 into a T (c.767C>T), resulting in a serine to leucine substitution (p.S256L). Apical accumulation of the protein is lost in the renal collecting ducts of homozygotes. (J:109463)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Aqp2 Mutation:  13 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Congenital Obstructive Nephropathy (J:109463)
References
Original:  J:13746 Fox S, et al., Juvenile polycystic kidneys - jpk. Mouse News Lett. 1978;58:47
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/26/2019
MGI 6.14
The Jackson Laboratory