Phenotypes associated with this allele

• Allele Symbol: Nphs1^tm1.1Tbh
• Allele Name: targeted mutation 1.1, Tobias B Huber
• Allele ID: MGI:6356793
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nphs1^tm1.1Tbh/Nphs1^tm1.1Tbh	involves: C57BL/6 * CBA	MGI:6460378

Genotype
MGI:6460378

hm1

• Allelic Composition: Nphs1^tm1.1Tbh/Nphs1^tm1.1Tbh
• Genetic Background: involves: C57BL/6 * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:241326 )

• mice die within 5 days of birth

perinatal lethality, incomplete penetrance ( J:241326 )

• mice begin to die perinatally

renal/urinary system

increased urine protein level ( J:241326 )

• mice are born with nephrotic-range proteinuria

abnormal podocyte foot process morphology ( J:241326 )

• mice exhibit broadened primary processes and shortened secondary foot processes

abnormal podocyte slit diaphragm morphology ( J:241326 )

• mice show a substantial percentage (20%) of open slits showing some residual parts of a shortened slit diaphragm (22 nm)

• glomeruli show thin and short strand-like junctions between incompletely effaced foot processes

abnormal renal reabsorption ( J:241326 )

• glomeruli show signs of increased tubular protein uptake with mice showing protein-filled proximal tubular cells

homeostasis/metabolism

increased urine protein level ( J:241326 )

• mice are born with nephrotic-range proteinuria