Phenotypes Associated with This Genotype

Genotype
MGI:3054426

• Allelic Composition: Kitl^Sl-17H/Kitl^Sl-17H
• Genetic Background: C3H/HeH-Kitl^Sl-17H

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

pigmentation

absent coat pigmentation ( J:24739 )

• white coat with some dark pigmentation on the ears and occasional pigmented spot on the rump

reproductive system

decreased oocyte number ( J:2880 )

♀ • at P12, mutant ovaries contain significantly fewer oocytes than wild-type ovaries

♀ • at P12, homozygotes show a 6- to 8-fold reduction in the number of primordial (resting) and growing oocytes relative to wild-type controls

♀ • at 7 months of age, no oocytes or follicular tissue are observed

decreased male germ cell number ( J:2880 )

♂ • at P12, mutant seminiferous tubules contain fewer and less differentiated germ cells than wild-type tubules

♂ • by 5 weeks of age, mutant tubules contain only a few germ cells and show virtual cessation of spermatogenesis

decreased primordial germ cell number ( J:115437 , J:2880 )

• moderate numbers of primordial germ cells (PGCs) are seen in genital ridges relative to wild-type and Kitl^Sl-gb homozygotes at E11.5 (J:115437)

• at E11.5 and E12.5, PGC numbers are reduced to 18-24% and ~6%, respectively, of those in wild-type controls; both sexes are equally affected (J:2880)

• unlike in wild-type controls, PGC numbers are decreased from E11.5 to E12.5, suggesting that both PGC survival and/or proliferation may be impaired (J:2880)

small ovary ( J:2880 )

♀ • at P12, mutant ovaries are significantly smaller than wild-type

increased Leydig cell number ( J:2880 )

♂ • hyperplasia of the interstitial cells is observed at 5 weeks of age

abnormal spermatogenesis ( J:2880 )

♂ • delayed onset and reduction in numbers of germ cells

♂ • depletion of differentiating germ cells by 8 weeks of age

male infertility ( J:2880 )

♂ • male, but not female, homozygotes are sterile

endocrine/exocrine glands

small ovary ( J:2880 )

♀ • at P12, mutant ovaries are significantly smaller than wild-type

increased Leydig cell number ( J:2880 )

♂ • hyperplasia of the interstitial cells is observed at 5 weeks of age

neoplasm

increased adenoma incidence ( J:2880 )

• at 7 months of age, mutant ovaries exhibit large invaginations of the surface epithelium, an extensive network of complex tubular adenoma and fat infiltration

integument

absent coat pigmentation ( J:24739 )

• white coat with some dark pigmentation on the ears and occasional pigmented spot on the rump

cellular

decreased oocyte number ( J:2880 )

♀ • at P12, mutant ovaries contain significantly fewer oocytes than wild-type ovaries

♀ • at P12, homozygotes show a 6- to 8-fold reduction in the number of primordial (resting) and growing oocytes relative to wild-type controls

♀ • at 7 months of age, no oocytes or follicular tissue are observed

decreased male germ cell number ( J:2880 )

♂ • at P12, mutant seminiferous tubules contain fewer and less differentiated germ cells than wild-type tubules

♂ • by 5 weeks of age, mutant tubules contain only a few germ cells and show virtual cessation of spermatogenesis

decreased primordial germ cell number ( J:115437 , J:2880 )

• moderate numbers of primordial germ cells (PGCs) are seen in genital ridges relative to wild-type and Kitl^Sl-gb homozygotes at E11.5 (J:115437)

• at E11.5 and E12.5, PGC numbers are reduced to 18-24% and ~6%, respectively, of those in wild-type controls; both sexes are equally affected (J:2880)

• unlike in wild-type controls, PGC numbers are decreased from E11.5 to E12.5, suggesting that both PGC survival and/or proliferation may be impaired (J:2880)