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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nphs1Gt(pT1Betageo)1Ruiz
gene trap 1, Patricia Ruiz
MGI:2678400
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nphs1Gt(pT1Betageo)1Ruiz/Nphs1Gt(pT1Betageo)1Ruiz involves: 129P2/OlaHsd * C57BL/6 MGI:2678505
ht2
Nphs1Gt(pT1Betageo)1Ruiz/Nphs1+ involves: 129P2/OlaHsd * C57BL/6 MGI:2678506


Genotype
MGI:2678505
hm1
Allelic
Composition
Nphs1Gt(pT1Betageo)1Ruiz/Nphs1Gt(pT1Betageo)1Ruiz
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphs1Gt(pT1Betageo)1Ruiz mutation (0 available); any Nphs1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 13 of 14 homozygotes die shortly after birth
• one mouse survived for 7 days, but was reduced in size relative to wild-type and exhibited severe proteinuria

renal/urinary system
• severe proteinuria exhibited by a mouse that survived the perinatal period
• described as nephrotic syndrome
• 1/3 of foot processes display a flattened pattern
• greater than 90% of podocyte foot processes are fused
• observed interpodocyte junctions show tight adherence
• occasional interpodocyte junctions appear as close contact areas that lack slit diaphragms
• fibrotic glomeruli with distorted structures and cystic tubular lesions
• glomeruli exhibit hypercellularity and excessive extracellular matrix deposition
• excessive extracellular matrix deposition
• fibrotic glomeruli
• dilation of tubules

homeostasis/metabolism
• severe proteinuria exhibited by a mouse that survived the perinatal period

Mouse Models of Human Disease
OMIM ID Ref(s)
Nephrotic Syndrome, Type 1; NPHS1 256300 J:86048




Genotype
MGI:2678506
ht2
Allelic
Composition
Nphs1Gt(pT1Betageo)1Ruiz/Nphs1+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nphs1Gt(pT1Betageo)1Ruiz mutation (0 available); any Nphs1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• approximately 33% of podocyte foot processes were fused

Mouse Models of Human Disease
OMIM ID Ref(s)
Nephrotic Syndrome, Type 1; NPHS1 256300 J:86048





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory