Phenotypes associated with this allele

• Allele Symbol: Nupr1^tm1Jlio
• Allele Name: targeted mutation 1, Juan Lucio Iovanna
• Allele ID: MGI:3784016
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nupr1^tm1Jlio/Nupr1^tm1Jlio	involves: 129S1/Sv * 129X1/SvJ	MGI:3784866

Genotype
MGI:3784866

hm1

• Allelic Composition: Nupr1^tm1Jlio/Nupr1^tm1Jlio
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

reproductive system

reproductive system phenotype ( J:140899 )

N • pituitary development is normal

azoospermia ( J:140899 )

♂ • at 10 months of age, seminiferous tubules lack germ cells

abnormal corpus luteum morphology ( J:140899 )

♀ • at 8 weeks of age, female mice lack corpus lutea

♀ • however, by weeks 11 and 12 all ovaries contain corpus lutea

delayed sexual maturation ( J:140899 )

♀ • in female mice, corpus lutea do not form until 11 to 12 weeks of age unlike in wild-type mice

homeostasis/metabolism

increased follicle stimulating hormone level ( J:140899 )

• at 10 months of age, male mice exhibit an increase in pituitary follicle stimulating hormone levels

decreased luteinizing hormone level ( J:140899 )

• at E16.5, expression of luteinizing hormone (LHB) is absent from pituitary

• however, expression is restored by P2

increased luteinizing hormone level ( J:140899 )

• at 10 months of age, male mice exhibit an increase in pituitary luteinizing hormone levels

cellular

azoospermia ( J:140899 )

♂ • at 10 months of age, seminiferous tubules lack germ cells

abnormal cell cycle ( J:133728 )

• the number of MEFs in S and G2/M phases is increased

abnormal cell death ( J:133728 )

• reduced sensitivity to apoptosis induced by adriamycin treatment

increased fibroblast proliferation ( J:133728 )

• in homozygous MEFs from passages 2 - 6

• decrease in proliferation in response to serum deprivation is less severe compared to wild-type MEFs

• despite changes in cell proliferation, no gross abnormalities are detected in peripheral blood, liver, lung, intestine, pancreas, testis, brain, kidney, or heart

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:140899 )

N • pituitary development is normal

abnormal corpus luteum morphology ( J:140899 )

♀ • at 8 weeks of age, female mice lack corpus lutea

♀ • however, by weeks 11 and 12 all ovaries contain corpus lutea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sertoli cell-only syndrome		DOID:0050457		J:140899