Phenotypes associated with this allele

• Allele Symbol: Epha1^tm1Sld
• Allele Name: targeted mutation 1, Shannon L Duffy
• Allele ID: MGI:3822370
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Epha1^tm1Sld/Epha1^tm1Sld	involves: 129 * C57BL/6J	MGI:3822371

Genotype
MGI:3822371

hm1

• Allelic Composition: Epha1^tm1Sld/Epha1^tm1Sld
• Genetic Background: involves: 129 * C57BL/6J

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

Uterovaginal abnormalities in Epha1^tm1Sld/Epha1^tm1Sld mice

reproductive system

endometrium inflammation ( J:142722 )

♀ • mice exhibit endometrium inflammation secondary to hydrometrocolpos

vaginal inflammation ( J:142722 )

• mice exhibit inflammation of the vaginal mucosa secondary to hydrometrocolpos

dilated uterine horn ( J:142722 )

♀ • mice exhibit dilated, attenuated uterine horns secondary to hydrometrocolpos

enlarged uterus ( J:142722 )

♀ • mice exhibit an enlarged uterus due to an accumulation of clear uterine fluid (hydrometrocolpos)

increased uterus weight ( J:142722 )

♀

vagina atresia ( J:142722 )

♀ • 18% of mice exhibit a failure of vaginal opening

♀ • despite normal estrogen receptor expression, beta-estradiol treatment fails to induce precocious vaginal opening in P12 mice unlike in wild-type mice and vaginal opening can not be induced by likewise treating affected adult mice

hydrometrocolpos ( J:142722 )

♀ • mice exhibit inflammation of the vaginal mucosa and endometrium with dilated, attenuated uterine horns secondary to hydrometrocolpos

female infertility ( J:142722 )

♀ • female mice affected by hydrometrocolpos are sterile

limbs/digits/tail

kinked tail ( J:142722 )

• up to 80% of mice exhibit a kinky tail due to incorrectly positioned caudal vertebrae

growth/size/body

distended abdomen ( J:142722 )

• in some mice due to an enlarged uterus

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:142722 )

• treatment with beta-estradiol fails to induce apoptosis in the lower genital tract and precocious vaginal opening unlike in wild-type mice

skeleton

skeleton phenotype ( J:142722 )

N • despite a kinky tail, mice exhibit normal skeletal morphology

immune system

endometrium inflammation ( J:142722 )

♀ • mice exhibit endometrium inflammation secondary to hydrometrocolpos

vaginal inflammation ( J:142722 )

• mice exhibit inflammation of the vaginal mucosa secondary to hydrometrocolpos