Phenotypes Associated with This Genotype

Genotype
MGI:3710989

• Allelic Composition: Fkbp4^tm1Shou/Fkbp4^tm1Shou
• Genetic Background: involves: 129S/SvEv

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

Abnormal male reproductive anatomy in Fkbp4^tm1Shou/Fkbp4^tm1Shou mice

cellular

abnormal sperm motility ( J:120960 )

♂ • slightly reduced (47.7+/-8.8 compared to 69.0+/-8.8 in wild-type)

reproductive system

abnormal reproductive system morphology ( J:120960 )

abnormal anogenital distance ( J:120960 )

• shortened in mice 3 to 10 weeks of age

abnormal male reproductive system morphology ( J:120960 )

♂ • feminization phenotype, similar to that seen in androgen receptor null mice, occurs less frequently

♂ • however, primary sex organs (testes, epididymis, scrotal sac and inguinal canals) are normal

abnormal prostate gland development ( J:120960 )

♂ • prostate glands initially form but lack further growth at puberty and become dysgenic

decreased seminal vesicle weight ( J:120960 )

♂ • 5.28+/-1.58mg/g compared to 7.40+/-1.31mg/g in wild-type

abnormal penis morphology ( J:120960 )

♂ • ectopic opening on the ventral side of the penis

abnormal foreskin morphology ( J:120960 )

♂ • foreskin is underdeveloped exposing the penile glans and anterior portion of the tubercle

small penis ( J:120960 )

♂ • penile length (44.4+/-0.33mm compared to 6.1+/-0.16mm in wild-type) and weight (0.56+/-0.16mg/g compared to 0.77+/-0.13mg/g in wild-type) are decreased

abnormal reproductive system physiology ( J:120960 )

abnormal sperm motility ( J:120960 )

♂ • slightly reduced (47.7+/-8.8 compared to 69.0+/-8.8 in wild-type)

female infertility ( J:120960 )

♀ • females are infertile due to implantation failure

decreased litter size ( J:120960 )

• males mated to wild-type females yield smaller litters (2.1+/-0.9 pups) compared to wild-type (6.8+/-1.6 pups)

reduced male fertility ( J:120960 )

♂ • male mice have greatly reduced fertility with only 5% of mice being able to plug females

homeostasis/metabolism

increased circulating testosterone level ( J:120960 )

• slightly increased serum testosterone and DHT levels

growth/size/body

decreased body weight ( J:120960 )

• males weigh less postnatally

postnatal growth retardation ( J:120960 )

• males exhibit decreased growth rates compared to females and wild-type mice

renal/urinary system

abnormal penis morphology ( J:120960 )

♂ • ectopic opening on the ventral side of the penis

abnormal foreskin morphology ( J:120960 )

♂ • foreskin is underdeveloped exposing the penile glans and anterior portion of the tubercle

small penis ( J:120960 )

♂ • penile length (44.4+/-0.33mm compared to 6.1+/-0.16mm in wild-type) and weight (0.56+/-0.16mg/g compared to 0.77+/-0.13mg/g in wild-type) are decreased

penile hypospadia ( J:120960 )

• found in 100% of the external penile genitalia

• developmental defect resulting from the failure to form urethral seams

digestive/alimentary system

abnormal anogenital distance ( J:120960 )

• shortened in mice 3 to 10 weeks of age

endocrine/exocrine glands

abnormal prostate gland development ( J:120960 )

♂ • prostate glands initially form but lack further growth at puberty and become dysgenic

decreased seminal vesicle weight ( J:120960 )

♂ • 5.28+/-1.58mg/g compared to 7.40+/-1.31mg/g in wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
androgen insensitivity syndrome		DOID:4674	OMIM:300068	J:120960