Phenotypes associated with this allele

• Allele Symbol: Cmas^tm1.1Bwei
• Allele Name: targeted mutation 1.1, Birgit Weinhold
• Allele ID: MGI:6281180
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cmas^tm1.1Bwei/Cmas^tm1.1Bwei Tg(NPHS2-cre)295Lbh/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6402523

Genotype
MGI:6402523

cn1

• Allelic Composition: Cmas^tm1.1Bwei/Cmas^tm1.1Bwei; Tg(NPHS2-cre)295Lbh/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

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

cardiovascular system

dilated glomerular capillary ( J:286022 )

• dilatation and narrowing at P42

growth/size/body

weight loss ( J:286022 )

• starting at P28

postnatal growth retardation ( J:286022 )

• starting at P28

homeostasis/metabolism

increased urine protein level ( J:286022 )

• progressive, starting around P28

immune system

tubular nephritis ( J:286022 )

• eosinophilic material in some proximal and distal tubules at P28

mortality/aging

premature death ( J:286022 )

• between postnatal weeks 6 and 8

renal/urinary system

dilated glomerular capillary ( J:286022 )

• dilatation and narrowing at P42

increased mesangial cell number ( J:286022 )

• at P42, mice exhibit mesangial cell expansion and activation in the smooth muscle cell of blood vessels, the center of the glomerular tufts (P57), and in Bowmans capsule (P42 and P57) unlike control mice

increased urine protein level ( J:286022 )

• progressive, starting around P28

tubular nephritis ( J:286022 )

• eosinophilic material in some proximal and distal tubules at P28

fused podocyte foot processes ( J:286022 )

• at P42

podocyte foot process effacement ( J:286022 )

• resulting in podocyte fusion, complete loss of slit diaphragm and microvillous transformation at P42

abnormal podocyte slit diaphragm morphology ( J:286022 )

• with reduction in mature slit diaphragm at P28

absent podocyte slit diaphragm ( J:286022 )

• at P42

podocyte microvillus transformation ( J:286022 )

• at P42

dilated renal glomerular capsule ( J:286022 )

• at P42

expanded mesangial matrix ( J:286022 )

• at P42

glomerulosclerosis ( J:286022 )

• focal segmental glomerulosclerosis (FSGS) with some glomeruli severely affected while others have no signs of pathology

• however, mice do not exhibit endothelial fenestration or altered glomeruli basement membrane morphology

renal glomerular synechia ( J:286022 )

• of glomerular tufts to Bowmans capsule with dilation of both at P42

renal fibrosis ( J:286022 )

• increased collagen deposition at P42

abnormal renal filtration rate ( J:286022 )

• reduced glomerular filtration rate at P28

cellular

increased mesangial cell number ( J:286022 )

• at P42, mice exhibit mesangial cell expansion and activation in the smooth muscle cell of blood vessels, the center of the glomerular tufts (P57), and in Bowmans capsule (P42 and P57) unlike control mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal segmental glomerulosclerosis		DOID:1312	OMIM:PS603278	J:286022