Phenotypes Associated with This Genotype

Genotype
MGI:6093713

• Allelic Composition: Lifr^tm1Imx/Lifr^tm1Imx
• Genetic Background: B6;129S7-Lifr^tm1Imx/J

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:242320 )

• fewer than the expected number (18.7% vs. 25%) of fetuses are seen at E18.5

growth/size/body

decreased fetal size ( J:242320 )

• small size at E18.5

endocrine/exocrine glands

cryptorchism ( J:242320 )

♂ • 100% of fetuses show a ligamentous tethering of the testis to the dorsal aorta impairing testicular descent, indicating cryptorchidism

renal/urinary system

abnormal renal/urinary system morphology ( J:242320 )

• 70% of fetuses show ureter and kidney anomalies at E18.5, with 10% having severe and 60% having milder anomalies

• various abnormalities are seen in fetuses, including mild or severe hydronephrosis, a dilated renal collecting system, blind-ending ureter, hydroureter, microcystically dilated tubules, and ureter ectopia

abnormal kidney morphology ( J:242320 )

• 10% of fetuses exhibit renal dysplasia

decreased renal glomerulus number ( J:242320 )

• reduction of glomerular number per kidney volume and glomerular volume

abnormal kidney development ( J:242320 )

• E15.5 kidney shows a reduction of comma shaped bodies, premature glomeruli, and all glomerular developmental stages per kidney section

hydronephrosis ( J:242320 )

• in a subset of mutants

small kidney ( J:242320 )

• kidney size is reduced at E15.5

renal hypoplasia ( J:242320 )

• in a subset of mutants

decreased nephron number ( J:242320 )

• nephron number is reduced at E15.5

abnormal ureter morphology ( J:242320 )

• reduction of the proximal, medial and distal ureteric lumen at E18.5

• hypertrophy of the distal ureter wall

abnormal ureter smooth muscle morphology ( J:242320 )

• thickness of the ureteric smooth muscle layer and the urothelium are increased

blind ureter ( J:242320 )

• in a subset of mutants

ectopic ureter ( J:242320 )

• in a subset of mutants

hydroureter ( J:242320 )

• 10% of E18.5 fetuses exhibit severe hydroureter

reproductive system

cryptorchism ( J:242320 )

♂ • 100% of fetuses show a ligamentous tethering of the testis to the dorsal aorta impairing testicular descent, indicating cryptorchidism

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CAKUT		DOID:0080205	OMIM:PS610805	J:242320