Phenotypes Associated with This Genotype

Genotype
MGI:6157327

• Allelic Composition: Fryl^{Gt(Ayu21-T312)Imeg}/Fryl^{Gt(Ayu21-T312)Imeg}
• Genetic Background: B6J.Cg-Fryl^{Gt(Ayu21-T312)Imeg}

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

mortality/aging

premature death ( J:260667 )

• 4 of 6 females and 1 of 3 males died at various ages; among them, one female and one male died at 7 and 6 weeks of age, respectively

• more than half of survivors died of hydronephrosis before 1 year of age

postnatal lethality, incomplete penetrance ( J:260667 )

• cross between heterozygotes yielded only 9 homozygotes (6 females, 3 males) out of 203 progeny at 2 weeks of age (4.4% of total offspring)

• however, homozygotes were found at normal Mendelian ratios at E18.5

growth/size/body

decreased body weight ( J:260667 )

• at 5-14 weeks of age, surviving males and females exhibited significantly reduced body weight relative to age-matched controls

kidney cyst ( J:260667 )

• both hydronephrotic and normal looking kidneys showed cyst formations

kidney cortex cyst ( J:260667 )

• hydronephrotic kidneys showed cyst formations within the cortex

kidney medulla cyst ( J:260667 )

• hydronephrotic kidneys showed cyst formations within the medulla

postnatal growth retardation ( J:260667 )

• rare survivors exhibited significantly lower body weight gain relative to controls

enlarged kidney ( J:260667 )

• dead homozygotes exhibited larger kidneys

renal/urinary system

increased kidney apoptosis ( J:260667 )

• at E18.5, most cells of the renal parenchyma had pycnotic TUNEL+ nuclei

kidney cyst ( J:260667 )

• both hydronephrotic and normal looking kidneys showed cyst formations

kidney cortex cyst ( J:260667 )

• hydronephrotic kidneys showed cyst formations within the cortex

kidney medulla cyst ( J:260667 )

• hydronephrotic kidneys showed cyst formations within the medulla

enlarged kidney ( J:260667 )

• dead homozygotes exhibited larger kidneys

kidney inflammation ( J:260667 )

• hydronephrotic kidneys showed mononuclear cell infiltration

• normal looking kidneys showed eosinophilic infiltrations

abnormal kidney collecting duct morphology ( J:260667 )

• kidneys of full-term (E18.5) embryos showed abnormal collecting tubules

dilated kidney collecting duct ( J:260667 )

• live newborns showed severe luminal expansion of collecting ducts

abnormal kidney development ( J:260667 )

• kidneys of live neonates and full-term (E18.5) embryos showed abnormal lining cell layer detachments from walls of collecting and convoluted tubules

renal interstitial fibrosis ( J:260667 )

• hydronephrotic kidneys showed fibrosis of the interstitium

hydronephrosis ( J:260667 )

• dead homozygotes exhibited hydronephrosis

• hydronephrotic kidneys showed chronic progressive nephropathies including fibrosis of the interstitium, mononuclear cell infiltration, cyst formations within the cortex or medulla, and pelvic dilation

• normal looking kidneys also showed chronic nephropathic changes, including cyst formations and eosinophilic infiltrations

• kidneys of all 4 long survivors (2 males and 2 females) showed weak nephropathic changes such as leukocyte infiltrations and small cyst formation

abnormal renal tubule morphology ( J:260667 )

• kidneys of live newborns showed detachment of tubular wall lining cell layer from the basal layer and the presence of materials filling the space between the detached cell layer and the basal layer

• kidneys of full-term (E18.5) embryos displayed more severe lesions than kidneys of live neonates; detachment of tubular wall lining cell layer from the basal layer was also observed but the space in embryonic kidneys was almost empty

pale kidney ( J:260667 )

• dead homozygotes exhibited pale kidneys

immune system

kidney inflammation ( J:260667 )

• hydronephrotic kidneys showed mononuclear cell infiltration

• normal looking kidneys showed eosinophilic infiltrations

cellular

increased kidney apoptosis ( J:260667 )

• at E18.5, most cells of the renal parenchyma had pycnotic TUNEL+ nuclei