Phenotypes associated with this allele

• Allele Symbol: Kit^tm1Hntr
• Allele Name: targeted mutation 1, Tony Hunter
• Allele ID: MGI:2181624
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kit^tm1Hntr/Kit^tm1Hntr	either: (involves: 129/Sv * C57BL/6 * DBA/2) or (involves: 129S1)	MGI:3573926

Genotype
MGI:3573926

hm1

• Allelic Composition: Kit^tm1Hntr/Kit^tm1Hntr
• Genetic Background: either: (involves: 129/Sv * C57BL/6 * DBA/2) or (involves: 129S1)

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

pigmentation

pigmentation phenotype ( J:60192 )

N • homozygotes exhibit normal skin and retinal pigmentation relative to wild-type mice; melanocytes are present at normal numbers in the base of hair follicles

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:60192 )

♂ • mutant seminiferous tubules contain only two distinct cell types, Sertoli cells and spermatogonial stem cells, in a single outer cell layer

testis hypoplasia ( J:60192 )

♂ • mutant males exhibit normal libido and produce vaginal plugs, but their testes are severely hypoplastic relative to wild-type mice

♂ • testicular development proceeds normally until P8, when mutant testes show normal organization and contain the expected cell types, including germ cells, at roughly normal numbers

growth/size/body

growth/size/body region phenotype ( J:60192 )

N • homozygotes are viable and healthy and have normal body weights relative to wild-type mice

hematopoietic system

hematopoietic system phenotype ( J:60192 )

N • homozygotes display normal hematopoiesis and hematological parameters, including normal white cell and differential counts, as well as normal hemoglobin, mean cell volume and mean cell haemoglobin concentration relative to wild-type mice

N • no macrocytic anemia is observed

reproductive system

abnormal spermatogonia proliferation ( J:60192 )

♂ • at P8, male homozygotes exhibit only a few spermatogonial cells relative to wild-type mice

♂ • mutant males display an initial reduction in proliferation and subsequent extensive apoptosis at the spermatogonial stem-cell level, resulting in more undifferentiated spermatogonial stem cells and Sertoli cells that persist through adulthood

abnormal seminiferous tubule morphology ( J:60192 )

♂ • mutant seminiferous tubules contain only two distinct cell types, Sertoli cells and spermatogonial stem cells, in a single outer cell layer

testis hypoplasia ( J:60192 )

♂ • mutant males exhibit normal libido and produce vaginal plugs, but their testes are severely hypoplastic relative to wild-type mice

♂ • testicular development proceeds normally until P8, when mutant testes show normal organization and contain the expected cell types, including germ cells, at roughly normal numbers

arrest of spermatogenesis ( J:60192 )

♂ • male homozygotes exhibit arrested spermatogenesis, probably due to an early spermatogonial stem cell differentiation block

male infertility ( J:60192 )

♂ • homozygous mutant males are sterile

♂ • in contrast, mutant females are fully fertile with normal ovaries and a normal number/size of oocytes and ruptured follicles

cellular

abnormal spermatogonia proliferation ( J:60192 )

♂ • at P8, male homozygotes exhibit only a few spermatogonial cells relative to wild-type mice

♂ • mutant males display an initial reduction in proliferation and subsequent extensive apoptosis at the spermatogonial stem-cell level, resulting in more undifferentiated spermatogonial stem cells and Sertoli cells that persist through adulthood