Phenotypes associated with this allele

• Allele Symbol: Scgb1a1^tm1Abm
• Allele Name: targeted mutation 1, Anil B Mukherjee
• Allele ID: MGI:2386295
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scgb1a1^tm1Abm/Scgb1a1^tm1Abm	involves: 129S1/Sv * 129X1/SvJ	MGI:2684391
ht2	Scgb1a1^tm1Abm/Scgb1a1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:6313624

Genotype
MGI:2684391

hm1

• Allelic Composition: Scgb1a1^tm1Abm/Scgb1a1^tm1Abm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

endocrine/exocrine glands

pancreas necrosis ( J:40748 )

• local areas of necrosis

growth/size/body

weight loss ( J:40748 )

cachexia ( J:40748 )

• extreme by 10 months of age

hematopoietic system

increased IgA level ( J:57504 )

• mice exhibit heavy glomerular deposition of IgA

• however, no increase in IgA levels in the plasma is seen

homeostasis/metabolism

abnormal blood homeostasis ( J:57504 )

• mice exhibit a high level of circulating IgA-fibronectin complexes in plasma

decreased circulating calcium level ( J:40748 )

abnormal complement protein level ( J:57504 )

• mice exhibit abnormal renal glomerular deposition of complement C3

increased urine protein level ( J:40748 )

hematuria ( J:57504 )

• the erythrocyte count in urine is much higher indicating microhematuria

immune system

increased IgA level ( J:57504 )

• mice exhibit heavy glomerular deposition of IgA

• however, no increase in IgA levels in the plasma is seen

abnormal complement protein level ( J:57504 )

• mice exhibit abnormal renal glomerular deposition of complement C3

renal/urinary system

increased urine protein level ( J:40748 )

hematuria ( J:57504 )

• the erythrocyte count in urine is much higher indicating microhematuria

abnormal kidney morphology ( J:40748 )

• fibrosis of renal parenchyma

• collagen deposits in the kidney

• tubular hyperplasia

abnormal renal glomerulus morphology ( J:57504 )

• mice exhibit heavy glomerular deposition of IgA and deposition of complement C3

• glomeruli exhibit increased expression of fibronectin and collagen type IV

cortical renal glomerulopathies ( J:40748 )

• fulminant renal glomerular disease

• hypocellular glomeruli

• massive eosinophilic proteinaceous deposits

respiratory system

abnormal respiratory system morphology ( J:65254 )

• airway lengths and numbers relatively less

• areas occupied by neuroendocrine bodies about 30-39% smaller

• however, no gross abnormalities were observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
IgA glomerulonephritis		DOID:2986	OMIM:161950	J:57504

Genotype
MGI:6313624

ht2

• Allelic Composition: Scgb1a1^tm1Abm/Scgb1a1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

hematopoietic system

increased IgA level ( J:57504 )

• mice exhibit moderate glomerular deposition of IgA

homeostasis/metabolism

abnormal complement protein level ( J:57504 )

• mice exhibit abnormal renal glomerular deposition of complement C3

immune system

increased IgA level ( J:57504 )

• mice exhibit moderate glomerular deposition of IgA

abnormal complement protein level ( J:57504 )

• mice exhibit abnormal renal glomerular deposition of complement C3

renal/urinary system

abnormal renal glomerulus morphology ( J:57504 )

• mice exhibit moderate glomerular deposition of IgA and deposition of complement C3

• glomeruli exhibit an abnormal deposition of an eosinophilic material which includes fibronectin and collagen