Phenotypes associated with this allele

• Allele Symbol: Ovol1^tm1Efu
• Allele Name: targeted mutation 1, Elaine Fuchs
• Allele ID: MGI:1926599
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ovol1^tm1Efu/Ovol1^tm1Efu	B6.129-Ovol1^tm1Efu	MGI:3815049
hm2	Ovol1^tm1Efu/Ovol1^tm1Efu	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2175197
ht3	Ovol1^tm1Efu/Ovol1^+	B6.129-Ovol1^tm1Efu	MGI:3815071

Genotype
MGI:3815049

hm1

• Allelic Composition: Ovol1^tm1Efu/Ovol1^tm1Efu
• Genetic Background: B6.129-Ovol1^tm1Efu

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:118154 )

• on a congenic B6 background, a portion of homozygotes die between E15.5 and E18.5, while approximate Mendelian ratios are obtained at and before E14.5

• Background Sensitivity: on a mixed 129 x B6 background, homozygotes are born at the expected Mendelian frequency and survive to adulthood

• Background Sensitivity: the lethality observed on a congenic B6 background is completely rescued by a single outcross with CD1 mice

postnatal lethality, incomplete penetrance ( J:118154 )

• on a congenic B6 background, fewer than expected homozygotes are obtained during the first 2 postnatal weeks

renal/urinary system

kidney cyst ( J:118154 )

• on a congenic B6 background, many homozygotes display severe unilateral or bilateral cystic kidneys as early as 3 weeks of age

• Background Sensitivity: on a mixed 129 X B6 background, severe cystic kidneys are only detected in mice older than 3 weeks of age and are always unilateral

• >90% of surviving homozygotes on a B6 congenic background exhibit enlarged, fluid-filled kidneys, with epithelial cysts first noted at E17

homeostasis/metabolism

impaired skin barrier function ( J:118154 )

• on a congenic B6 background, >50% of homozygotes show no sign of barrier acquisition at E16.5 while 100% display only partial dye extrusion at E17.5; this is in contrast to wild-type littermates, all of which show precocious sites of dye extrusion at E16.5 and are fully resistant to dye penetration by E17.5

• no obvious dye penetration defects are noted at E18.5 or birth, suggesting that homozygotes are delayed in their barrier acquisition by ~1 day

integument

impaired skin barrier function ( J:118154 )

• on a congenic B6 background, >50% of homozygotes show no sign of barrier acquisition at E16.5 while 100% display only partial dye extrusion at E17.5; this is in contrast to wild-type littermates, all of which show precocious sites of dye extrusion at E16.5 and are fully resistant to dye penetration by E17.5

• no obvious dye penetration defects are noted at E18.5 or birth, suggesting that homozygotes are delayed in their barrier acquisition by ~1 day

growth/size/body

kidney cyst ( J:118154 )

• on a congenic B6 background, many homozygotes display severe unilateral or bilateral cystic kidneys as early as 3 weeks of age

• Background Sensitivity: on a mixed 129 X B6 background, severe cystic kidneys are only detected in mice older than 3 weeks of age and are always unilateral

• >90% of surviving homozygotes on a B6 congenic background exhibit enlarged, fluid-filled kidneys, with epithelial cysts first noted at E17

Genotype
MGI:2175197

hm2

• Allelic Composition: Ovol1^tm1Efu/Ovol1^tm1Efu
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

mortality/aging ( J:118154 )

N • on a mixed 129 x B6 background, homozygotes are born at the expected Mendelian frequency and survive to adulthood

N • Background Sensitivity: on a congenic B6 background, homozygotes show a step-wise decline in survival, with death occurring both during late embryogenesis (between E15.5 and E18.5) and in the first 2 postnatal weeks

N • Background Sensitivity: the lethality observed on a congenic B6 background is completely rescued by a single outcross with CD1 mice

cellular

decreased male germ cell number ( J:50844 )

♂ • despite defects in many seminiferous tubules, some homozygotes produce sperm; however, sperm production is greatly reduced

♂ • only a few spermatogonia survive in severely affected testes

growth/size/body

kidney cyst ( J:50844 )

• focal cystic dilation is sometimes noted in adult kidneys along with signs of atrophy of surrounding renal tubules and glomeruli

• a lack of vascularization is also observed in mutant kidneys

kidney cortex cyst ( J:50844 )

• as early as P6, small cysts are noted within the developing cortex

• number and size of epithelial kidney cortex cysts increase with age

decreased body size ( J:50844 )

• at ~2 weeks of age, homozygotes appear runted

decreased body weight ( J:50844 )

• adult homozygotes weigh ~20%-25% less than wild-type littermates

reproductive system

decreased male germ cell number ( J:50844 )

♂ • despite defects in many seminiferous tubules, some homozygotes produce sperm; however, sperm production is greatly reduced

♂ • only a few spermatogonia survive in severely affected testes

abnormal testis morphology ( J:50844 )

♂ • male homozygotes show late-stage defects in the differentiation and/or maintenance of the testes

small seminiferous tubules ( J:50844 )

♂ • at 1 month of age, the diameters of mutant seminiferous tubules and numbers of cells within tubules are abnormally reduced

seminiferous tubule degeneration ( J:50844 )

♂ • adult male homozygotes display degenerating seminiferous tubules with a few spermatogonia; often only Sertoli cells remain

small testis ( J:50844 )

♂ • although initially normal in terms of size and morphology, mutant testes become abnormally small by 4 weeks of age

♂ • a lack of vascularization is also observed in mutant testes

decreased testis weight ( J:50844 )

♂ • by 4 weeks of age, mutant testes are only 15%-50% of wild-type testis weight

dilated uterine cervix ( J:50844 )

♀

dilated uterus ( J:50844 )

♀

constricted vagina orifice ( J:50844 )

♀ • in adult females, the external vaginal opening is often constricted

vagina atresia ( J:50844 )

♀ • in a few adult females, the external vaginal opening is completely fused

abnormal spermatogenesis ( J:50844 )

♂ • male homozygotes display defective differentiating cells from the primary spermatocyte stage onward

reduced female fertility ( J:50844 )

♀ • female homozygotes show reduced fertility primarily due to structural defects in the urogenital tract

♀ • however, no apparent defects are observed in oogenesis

reduced male fertility ( J:50844 )

♂ • although sperm production is markedly diminished, male homozygotes are not entirely sterile

renal/urinary system

abnormal kidney morphology ( J:50844 )

• homozygotes show late-stage defects in the differentiation and/or maintenance of the kidneys

• interestingly, whereas hair defects are more pronounced in males, urogenital defects occur predominantly in females

kidney cyst ( J:50844 )

• focal cystic dilation is sometimes noted in adult kidneys along with signs of atrophy of surrounding renal tubules and glomeruli

• a lack of vascularization is also observed in mutant kidneys

kidney cortex cyst ( J:50844 )

• as early as P6, small cysts are noted within the developing cortex

• number and size of epithelial kidney cortex cysts increase with age

kidney atrophy ( J:50844 )

endocrine/exocrine glands

abnormal testis morphology ( J:50844 )

♂ • male homozygotes show late-stage defects in the differentiation and/or maintenance of the testes

small seminiferous tubules ( J:50844 )

♂ • at 1 month of age, the diameters of mutant seminiferous tubules and numbers of cells within tubules are abnormally reduced

seminiferous tubule degeneration ( J:50844 )

♂ • adult male homozygotes display degenerating seminiferous tubules with a few spermatogonia; often only Sertoli cells remain

small testis ( J:50844 )

♂ • although initially normal in terms of size and morphology, mutant testes become abnormally small by 4 weeks of age

♂ • a lack of vascularization is also observed in mutant testes

decreased testis weight ( J:50844 )

♂ • by 4 weeks of age, mutant testes are only 15%-50% of wild-type testis weight

integument

abnormal auchene hair morphology ( J:50844 )

• at P8, occasional auchene hairs are defective

abnormal awl hair morphology ( J:50844 )

• at P8, occasional awl hairs are defective

ruffled hair ( J:50844 )

• at ~2 weeks of age, homozygotes display a visibly fuzzy, ruffled hair coat; more pronounced in males, but seen in both sexes

• however, newborn homozygotes show a largely unaffected skin morphology with no obvious biochemical defects in epidermal and hair-specific markers

splitting of guard hairs ( J:50844 )

• as early as P8, 16% of guard hairs display signs of separation or splitting

abnormal hair shaft morphology ( J:50844 )

• as early as P8, a number of hairs show kinks and/or intercellular splits within or along the hair shafts

• hair defects appear to arise from a structural weakness or mild changes in the intercellular interactions within the hair shaft

• however, no ultrastructural changes within cells of the inner root sheath, outer root sheath, cuticle, cortex, or medulla are observed

abnormal skin condition ( J:50844 )

• ~60% of adult female homozygotes show visibly moist skin in the external area surrounding the urogenital tract, along with hair loss in severe cases

Genotype
MGI:3815071

ht3

• Allelic Composition: Ovol1^tm1Efu/Ovol1⁺
• Genetic Background: B6.129-Ovol1^tm1Efu

renal/urinary system

kidney cyst ( J:118154 )

• on a congenic B6 background, only 1 of ~40 adult heterozygotes display a unilateral cystic kidney, in the absence of kidney developmental defects

growth/size/body

kidney cyst ( J:118154 )

• on a congenic B6 background, only 1 of ~40 adult heterozygotes display a unilateral cystic kidney, in the absence of kidney developmental defects