Phenotypes Associated with This Genotype

Genotype
MGI:5638792

• Allelic Composition: Tg(Ddx4-cre)1Dcas/0; Tg(EIF1AX-Lin28a)#Gqda/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CD-1 * FVB/N

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

mortality/aging

perinatal lethality ( J:211179 )

• perinatal lethality is seen in offspring from crosses between Tg(EIF1AX-Lin28a)#Gqda males with Tg(Ddx4-cre)1Dcas females (cre is expressed in oocytes)

neoplasm

increased kidney tumor incidence ( J:211179 )

• 10% of offspring from crosses between Tg(EIF1AX-Lin28a)#Gqda females with Tg(Ddx4-cre)1Dcas males (cre is expressed in primordial germ cells) develop renal tumors resembling Wilms tumor

• kidneys from E18.5 mutants transplanted under the kidney capsule of immunodeficient mice results in tumor development similar to Wilms tumor

renal/urinary system

enlarged kidney ( J:211179 )

• kidneys are larger at E18.5

increased kidney tumor incidence ( J:211179 )

• 10% of offspring from crosses between Tg(EIF1AX-Lin28a)#Gqda females with Tg(Ddx4-cre)1Dcas males (cre is expressed in primordial germ cells) develop renal tumors resembling Wilms tumor

• kidneys from E18.5 mutants transplanted under the kidney capsule of immunodeficient mice results in tumor development similar to Wilms tumor

abnormal kidney mesenchyme morphology ( J:211179 )

• persistent proliferation of cap mesenchyme cells in adults

delayed kidney development ( J:211179 )

• timing of kidney development is prolonged, sustaining proliferation of the cap mesenchyme cells into adulthood

abnormal proximal convoluted tubule morphology ( J:211179 )

• E18.5 kidneys contain fewer mature proximal tubules

growth/size/body

enlarged kidney ( J:211179 )

• kidneys are larger at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephroblastoma		DOID:2154	OMIM:194070	J:211179