Phenotypes associated with this allele

• Allele Symbol: Nr5a1^tm1Enl
• Allele Name: targeted mutation 1, En Li
• Allele ID: MGI:1857712
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr5a1^tm1Enl/Nr5a1^tm1Enl	involves: 129S4/SvJae	MGI:2180038

Genotype
MGI:2180038

hm1

• Allelic Composition: Nr5a1^tm1Enl/Nr5a1^tm1Enl
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

postnatal lethality, complete penetrance ( J:28971 )

• animals die within 10 days of birth

endocrine/exocrine glands

absent adrenal gland ( J:28971 )

abnormal pituitary gland morphology ( J:28971 )

• Ad4BP-1 nuclei absent

decreased gonadotroph cell number ( J:28971 )

• FSH-1 cells severely reduced

agonadal ( J:28971 )

• absence of testis and ovaries in males and females, respectively

absent ovary ( J:28971 )

• females lacked ovaries

absent testes ( J:28971 )

• males lacked testes

reproductive system

abnormal primary sex determination ( J:28971 )

agonadal ( J:28971 )

• absence of testis and ovaries in males and females, respectively

absent ovary ( J:28971 )

• females lacked ovaries

absent testes ( J:28971 )

• males lacked testes

abnormal secondary sex determination ( J:28971 )

secondary sex reversal ( J:28971 )

• regardless of genotypic sex, all had female internal genitalia

nervous system

abnormal pituitary gland morphology ( J:28971 )

• Ad4BP-1 nuclei absent

decreased gonadotroph cell number ( J:28971 )

• FSH-1 cells severely reduced

abnormal hypothalamus morphology ( J:28971 )

• aplasia or hypoplasia of the ventromedial hypothalamic nucleus and dorsal hypothalamic nucleus

decreased ventromedial hypothalamic nucleus size ( J:28971 )

• aplasia or hypoplasia

hypothalamus hypoplasia ( J:28971 )