Nedd4l^andi
Spontaneous Allele Detail

Summary

• Symbol: Nedd4l^andi
• Name: neural precursor cell expressed, developmentally down-regulated gene 4-like; adult nephrogenic diabetes insipidus
• MGI ID: MGI:4836397
• Gene: Nedd4l Location: Chr18:65020776-65350899 bp, + strand Genetic Position: Chr18, 37.57 cM, cytoband E1
• Alliance: Nedd4l^andi page

Mutation origin

• Strain of Origin: BALB/cByJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: 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. (J:165173)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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 Nedd4l Mutation: 73 strains or lines available

References

• Original: J:165173 Tao B, et al., NEDD4L is disrupted in a new mouse model of adult-onset Nephrogenic Diabetes Insipidus (NDI). ASN's 39th Annual Renal Week Meeting. 2006;:Abstr
• All: 6 reference(s)