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Nedd4landi
Spontaneous Allele Detail
Summary
Symbol: Nedd4landi
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: Nedd4landi page
Mutation
origin
Strain of Origin:  BALB/cByJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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)

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
10/29/2024
MGI 6.24
The Jackson Laboratory