BALB/cByJ-Nedd4l^andi/EiJ

Stock number: 003794
Product name: adult nephrogenic diabetes insipidus
Research areas: Endocrine Deficiency Research, Internal/Organ Research

Description

This spontaneous mutation is a genomic deletion in the Nedd4l gene and mice exhibit kidney defects. This strain may be useful in diabetes research.

Detailed description

Mice homozygous for the adult nephrogenic diabetes insipidus mutation can often be initially detected by a slight reduction in body size by wean age. By 4 to 6 weeks of age polyuria, polydipsia, and low urine osmolality can be detected and none of these phenotypes are responsive to DDAVP. Histology reveals highly abnormal renal tubules. Homozygotes breed but should not be relied upon to breed for as long as heterozygotes or wild-type BALB/cByJ mice because progressive hydronephrosis develops.

Development

The mutation adult nephrogenic diabetes insipidus arose spontaneously on the BALB/cByJ inbred background at The Jackson Laboratory in 1987, when that inbred was at generation F165, was backcrossed once to this inbred parental background and has been maintained on this background by sibling mating ever since.

Allele

Symbol: Nedd4l^andi
Name: adult nephrogenic diabetes insipidus
MGI accession ID: MGI:4836397
Generation method: Spontaneous
Marker symbol: Nedd4l
Marker name: neural precursor cell expressed, developmentally down-regulated gene 4-like
Marker synonyms: 1300012C07Rik; hNEDD4-2; NEDD4.2; Nedd4-2; Nedd4b; PVNH7; RSP5
Chromosome: 18
Strain of origin: BALB/cByJ
Molecular note: This spontaneous mutation is a genomic deletion that includes alternative exon 2 and is predicted to cause a truncating mutation in the longest Nedd4l isoform. Imunoblotting, using antipeptide antisera that recognizes a conserved epitope, identified two Nedd4l isoforms in the wild-type kidney, one approximately 115 kDa, the other 101 kDa. A transcript for the longer isoform is not detected in mice homozygous for this mutant allele.