|Institutional Source||Beutler Lab|
|Gene Name||nephrosis 1, nephrin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7647 (G1)|
|Chromosomal Location||30458315-30487223 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 30481965 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000116500 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006825] [ENSMUST00000126297]|
|Coding Region Coverage||
|Validation Efficiency||100% (43/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nphs1||
(F):5'- AGCACTTTCGTCCTGGAAGG -3'
(R):5'- ACCTGTGAAGGCTGGAGTTG -3'
(F):5'- TCGTCCTGGAAGGTCGGAG -3'
(R):5'- TGTCTGCCGTGATAAGAGCAACTC -3'