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Allele : Aqp2<cph> aquaporin 2; congenital progressive hydronephrosis

Primary Identifier  MGI:1856830 Allele Type  Spontaneous
Gene  Aqp2 Inheritance Mode  Recessive
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
description  Phenotypic Similarity to Human Syndrome: Congenital Obstructive Nephropathy (J:109463)
molecularNote  A 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.
  • mutations:
  • Single point mutation
  • synonyms:
  • jpk,
  • cph,
  • jpk,
  • cph
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele