Phenotypes associated with this allele

• Allele Symbol: Lhfpl2^vgim
• Allele Name: vaginal imperforation
• Allele ID: MGI:4880679
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lhfpl2^vgim/Lhfpl2^vgim	B6(129S4)-Lhfpl2^vgim/GrsrJ	MGI:4880766

Genotype
MGI:4880766

hm1

• Allelic Composition: Lhfpl2^vgim/Lhfpl2^vgim
• Genetic Background: B6(129S4)-Lhfpl2^vgim/GrsrJ

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

endocrine/exocrine glands

abnormal seminal vesicle morphology ( J:241136 )

• males with the more severe convolutions of the distal vas deferens also have abnormalities of the seminal vesicle morphology on one or both sides

embryo

abnormal Mullerian duct topology ( J:241136 )

• homozygotes at E15.5 have Mullerian ducts with enlarged tips that fail to merge or enter the urogenital sinus, and this results in unmerged upper vagina and lower vaginal agenesis

abnormal Wolffian duct connection ( J:241136 )

• at E15.5 the tips of the Wolffian ducts are enlarged and flattened and fail to enter the urogenital sinus, which results in the convolutions at the junctions of vas deferens and urethra

reproductive system

abnormal perineum morphology ( J:167822 )

abnormal seminal vesicle morphology ( J:241136 )

• males with the more severe convolutions of the distal vas deferens also have abnormalities of the seminal vesicle morphology on one or both sides

abnormal female reproductive system morphology ( J:241136 )

• in addition to the distal vaginal agenesis, during estrus all homozygotes have larger than normal reproductive tracts with 30% having a dark appearance in the uterus and upper vagina, although homozygotes have normal ovarian histology and function and normal uterine development and response to E2 treatment

abnormal female genitalia morphology ( J:167822 )

♀ • adult females have a soft, reducible swelling of the perineum due to the absence of a normal vaginal orifice, and at 19 weeks of age the vagina and cervix are found to be dilated

abnormal uterus morphology ( J:167822 )

♀ • uteri exhibit a buildup of a viscous fluid

dilated uterine cervix ( J:167822 )

♀

abnormal uterine horn morphology ( J:241136 )

• distended uterine horns and upper vagina

enlarged uterus ( J:241136 )

abnormal vagina morphology ( J:167822 , J:241136 )

• in addition to the distal vagina agenesis, the upper vagina has enlarged double lumens filled with viscous fluid and a compressed vaginal wall (J:241136)

♀ (J:167822)

abnormal vagina development ( J:167822 , J:241136 )

♀ (J:167822)

vagina atresia ( J:167822 , J:241136 )

• all homozygotes at 8 weeks of age have a closed vagina (J:241136)

♀ • complete closure of the vagina (J:167822)

abnormal vas deferens morphology ( J:241136 )

• all males have knot-like convolutions in the distal vas deferens at the junction with the urethra that result in either complete or incomplete blockage resulting in either sterility or reduced fertility, respectively

abnormal reproductive system development ( J:241136 )

• the Mullerian duct goes through initiation and elongation phases to reach the urogenital sinus, but there is failed tip development and no merging with the urogenital sinus

female infertility ( J:167822 )

♀

reduced male fertility ( J:241136 )

• despite normal sperm counts from cauda epididymis, approximately 70% of homozygous males are infertile because the blockage prevents release of sperm

digestive/alimentary system

abnormal perineum morphology ( J:167822 )

vision/eye

abnormal pupillary reflex ( J:167822 )

• enhanced pupil movement in both of 2 homozygotes at 17 weeks of age

cornea opacity ( J:167822 , J:241136 )

• corneal hazing is found at 17 weeks of age (J:167822)

• in both females and males (J:241136)

exophthalmos ( J:167822 , J:241136 )

• protruding eyes in both of 2 homozygotes assessed at 17 weeks of age (J:167822)

• in both females and males (J:241136)

thin retina inner nuclear layer ( J:167822 )

• varying expressivity described for this phenotype

behavior/neurological

abnormal pupillary reflex ( J:167822 )

• enhanced pupil movement in both of 2 homozygotes at 17 weeks of age

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:167822 )

• in both of 2 homozygotes at 3 months of age