Aqp2^cph
Spontaneous Allele Detail

Summary

• Symbol: Aqp2^cph
• Name: aquaporin 2; congenital progressive hydronephrosis
• MGI ID: MGI:1856830
• Synonyms: cph, jpk
• Gene: Aqp2 Location: Chr15:99476937-99482426 bp, + strand Genetic Position: Chr15, 56.13 cM
• Alliance: Aqp2^cph page

Small size and congenital obstruction in Aqp2^cph/Aqp2^cph 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 details: 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. (J:109463)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

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: 17 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)