Phenotypes associated with this allele

• Allele Symbol: Ermp1^em1Gjom
• Allele Name: endonuclease-mediated mutation 1, Monika Gjorgjieva
• Allele ID: MGI:7865790
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ermp1^em1Gjom/Ermp1^em1Gjom	C57BL/6J-Ermp1^em1Gjom	MGI:7865893
ht2	Ermp1^em1Gjom/Ermp1^+	Not Specified	MGI:7865894

Genotype
MGI:7865893

hm1

• Allelic Composition: Ermp1^em1Gjom/Ermp1^em1Gjom
• Genetic Background: C57BL/6J-Ermp1^em1Gjom

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

mortality/aging

embryonic lethality, complete penetrance ( J:361886 )

• no mice are obtained and no miscarriages or preterm stillbirths are detected during breeding suggesting lethality very early in development

Genotype
MGI:7865894

ht2

• Allelic Composition: Ermp1^em1Gjom/Ermp1⁺
• Genetic Background: Not Specified

renal/urinary system

increased urine protein level ( J:361886 )

♂ • however, urine osmolarity levels and overall renal ER stress levels are unaffected

♂ • mice exhibit proteinuria with age

kidney inflammation ( J:361886 )

♂ • more advanced fibrosis is accompanied by extensive inflammation, with T cell infiltration, increased cytokines such as IL-6 and IFN-gamma in the kidney cortex, and increased F4/80 macrophage marker in the glomeruli

abnormal kidney morphology ( J:361886 )

♂ • young mice show a tendency for increased expression of the tubular injury marker lipocalin 2 and slight changes in ER stress markers, suggesting a possible sensitivity to tubular injury

♂ • mice exhibit exacerbation of age-related kidney injury, showing greater glomerular, tubular, and interstitial injuries and increased cytoplasmic vacuolation at 16 months of age compared to wild-type mice

♂ • however, mice show normal kidney development and normal kidney morphology and histology at young ages

glomerulosclerosis ( J:361886 )

♂ • mice exhibit greater glomerulosclerosis with age than in wild-type mice

renal fibrosis ( J:361886 )

♂ • mice exhibit increased renal fibrosis with age, with a 2-fold increase in collagen deposits in the kidney cortex and medulla interstitium at 16 months of age

increased renal glomerular filtration rate ( J:361886 )

♂ • mice at 14, but not 10, months of age exhibit higher glomerular filtration rates

♂ • however, no changes in urinary volume excreted over 24 hours or in water intake are seen at 10 or 14 months of age

immune system

kidney inflammation ( J:361886 )

♂ • more advanced fibrosis is accompanied by extensive inflammation, with T cell infiltration, increased cytokines such as IL-6 and IFN-gamma in the kidney cortex, and increased F4/80 macrophage marker in the glomeruli

homeostasis/metabolism

increased urine protein level ( J:361886 )

♂ • however, urine osmolarity levels and overall renal ER stress levels are unaffected

♂ • mice exhibit proteinuria with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chronic kidney disease		DOID:784		J:361886