Phenotypes associated with this allele

• Allele Symbol: Clec2h^tm1.1Apma
• Allele Name: targeted mutation 1.1, Andrew P Makrigiannis
• Allele ID: MGI:7262867
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clec2h^tm1.1Apma/Clec2h^tm1.1Apma	B6(Cg)-Clec2h^tm1.1Apma	MGI:7262894
cx2	Clec2h^tm1.1Apma/Clec2h^tm1.1Apma Rag1^tm1Mom/Rag1^tm1Mom	B6.Cg-Rag1^tm1Mom Clec2h^tm1.1Apma	MGI:7262906

Genotype
MGI:7262894

hm1

• Allelic Composition: Clec2h^tm1.1Apma/Clec2h^tm1.1Apma
• Genetic Background: B6(Cg)-Clec2h^tm1.1Apma

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

renal/urinary system

kidney inflammation ( J:322835 )

• kidneys exhibit inflammation and immune cell infiltration

• 12-week-old kidneys show an increase in the number of neutrophils, T cells, and B cells, but no difference in renal NK cell, ILC or macrophage numbers

• glomerular accumulations of CD45+ cells

• intraglomerular accumulation of CD11c+ cells and periglomerular accumulations of F4/80+, NKp46+, and CD3+ cells in kidneys

• presence of IL-12 and IFN-gamma in cells of kidney tubulointerstitium

abnormal podocyte morphology ( J:322835 )

• severe podocyte damage

podocyte foot process effacement ( J:322835 )

increased renal glomerulus basement membrane thickness ( J:322835 )

abnormal renal glomerulus morphology ( J:322835 )

• kidneys exhibit glomerular pathologies and glomerular lesions, with areas of focal thickening of glomerular tufts, minimal periglomerular fibroblast proliferation associated with mild interstitial fibrosis and more severe lesions with mesangiolysis, capillary aneurysms that progress to disruption of glomeruli and presence of necrotizing cellular debris in Bowman's spaces

mesangiolysis ( J:322835 )

• the more severe glomerular lesions show mesangiolysis

renal glomerular immunoglobulin deposits ( J:322835 )

• kidneys show glomerular IgA deposits accompanied by pronounced IgM deposits and a lesser but consistent presence of IgG deposits

abnormal renal tubule morphology ( J:322835 )

• kidneys of 12-week-old mice show variable presence of proximal and distal tubular lesions which includes tubular epithelial cell flattening, nuclear displacement, and loss of brush borders

• kidneys show IgA, IgM, and IgG tubulointerstitial deposits

abnormal renal tubule epithelium morphology ( J:322835 )

• kidneys show tubular epithelial cell flattening

proximal convoluted tubule brush border loss ( J:322835 )

• kidneys show loss of brush borders in 12-week-old mice

renal tubular necrosis ( J:322835 )

• in rare instances, kidneys show tubular necrosis with luminal necrotic debris accumulation and complete epithelial loss in some areas

abnormal renal glomerular filtration ( J:322835 )

• normal kidney filtration is altered, with modest, but significant, increase in the urine protein to creatinine ratio, with increased serum creatinine but similar urine protein levels

• however, renal electrolyte homeostasis and blood pressure regulation are unaffected

adipose tissue

increased abdominal adipose tissue amount ( J:322835 )

• increase in abdominal adipose deposits in 24-week-old mice

• however, mice exhibit similar body weight as wild-type mice

abnormal renal fat pad morphology ( J:322835 )

• increase in perirenal adipose deposits in 24-week-old mice

• ectopic lipid accumulation within the kidneys

increased abdominal fat pad weight ( J:322835 )

• weight of abdominal adipose is higher

homeostasis/metabolism

increased circulating creatinine level ( J:322835 )

immune system

kidney inflammation ( J:322835 )

• kidneys exhibit inflammation and immune cell infiltration

• 12-week-old kidneys show an increase in the number of neutrophils, T cells, and B cells, but no difference in renal NK cell, ILC or macrophage numbers

• glomerular accumulations of CD45+ cells

• intraglomerular accumulation of CD11c+ cells and periglomerular accumulations of F4/80+, NKp46+, and CD3+ cells in kidneys

• presence of IL-12 and IFN-gamma in cells of kidney tubulointerstitium

Genotype
MGI:7262906

cx2

• Allelic Composition: Clec2h^tm1.1Apma/Clec2h^tm1.1Apma; Rag1^tm1Mom/Rag1^tm1Mom
• Genetic Background: B6.Cg-Rag1^tm1Mom Clec2h^tm1.1Apma

renal/urinary system

abnormal kidney capillary morphology ( J:322835 )

• kidneys show an increase in endocapillary proliferation

kidney inflammation ( J:322835 )

• kidneys show increased presence of IL-12 and IFN-gamma

• kidneys exhibit an extensive periglomerular accumulation of CD45+ cells, consisting of CD11c+, F4/80+, and Nkp46+ cells, indicating inflammation

abnormal renal glomerulus morphology ( J:322835 )

• glomerular lesions indicative of mild proliferative glomerulopathy and areas of glomerular fibrosis

increased mesangial cell number ( J:322835 )

• an increase in the presence of mesangial cellularity

glomerulosclerosis ( J:322835 )

• glomerulosclerosis or focal segmental sclerosis

glomerular crescent ( J:322835 )

renal glomerulus fibrosis ( J:322835 )

• areas of glomerular fibrosis

renal interstitial fibrosis ( J:322835 )

renal tubule atrophy ( J:322835 )

adipose tissue

abnormal adipose tissue amount ( J:322835 )

• abdominal lipid weight is increased compared to that in single Rag1 mutant homozygotes, but to a lesser extent than in single Clec2h mutant homozygotes

cardiovascular system

abnormal kidney capillary morphology ( J:322835 )

• kidneys show an increase in endocapillary proliferation

growth/size/body

decreased body weight ( J:322835 )

• body weight is lower than in single Rag1 mutant homozygotes

immune system

kidney inflammation ( J:322835 )

• kidneys show increased presence of IL-12 and IFN-gamma

• kidneys exhibit an extensive periglomerular accumulation of CD45+ cells, consisting of CD11c+, F4/80+, and Nkp46+ cells, indicating inflammation

cellular

increased mesangial cell number ( J:322835 )

• an increase in the presence of mesangial cellularity