Phenotypes associated with this allele

• Allele Symbol: Kitl^tm3.1Pbes
• Allele Name: targeted mutation 3.1, Peter Besmer
• Allele ID: MGI:4430868
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kitl^tm3.1Pbes/Kitl^tm3.1Pbes	involves: 129S1/Sv * C57BL/6J * FVB/N	MGI:4430871
ht2	Kitl^tm3.1Pbes/Kitl^+	involves: 129S1/Sv * C57BL/6J * FVB/N	MGI:4430872

Genotype
MGI:4430871

hm1

• Allelic Composition: Kitl^tm3.1Pbes/Kitl^tm3.1Pbes
• Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

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

mortality/aging

early reproductive senescence ( J:157170 )

• infertile after 8 weeks old

reproductive system

azoospermia ( J:157170 )

♂ • absence of developing germ cells in the testis and mature sperm in the epididymis in adult mice

♂ • multilayered seminiferous epithelia with mature sperm lining the lumen at 4 weeks

♂ • gradual loss of germ cells starting at 4 weeks, resulting in empty tubules by 8 weeks

decreased testis weight ( J:157170 )

♂ • 90% reduction compared to wild-type

early reproductive senescence ( J:157170 )

• infertile after 8 weeks old

reduced male fertility ( J:157170 )

♂

pigmentation

absent coat pigmentation ( J:157170 )

• white with black eyes and residual pigmentation on ear tips and snout

hematopoietic system

decreased erythrocyte cell number ( J:157170 )

• slightly reduced red blood cell numbers

increased mean corpuscular volume ( J:157170 )

• marginally increased mean corpuscular volume

decreased mast cell number ( J:157170 )

• severely reduced mast cell numbers per centimeter skin compared to wild-type as assessed by toluidine blue staining

• reduced peritoneal mast cell numbers

decreased T cell number ( J:157170 )

decreased thymocyte number ( J:157170 )

• decreased thymus cellularity

• decreased Lin- thymocyte numbers

• normal bone marrow cellularity

decreased double-negative T cell number ( J:157170 )

• decreased CD44+CD25+, CD44-CD25+, and CD44-CD25- in CD3-/CD8-/CD4- thymocyte subsets

decreased double-positive T cell number ( J:157170 )

• decreased CD4+/CD8+ double positive cells

abnormal bone marrow cell physiology ( J:157170 )

• strongly impaired hematopoietic growth in long-term bone marrow cultures

endocrine/exocrine glands

decreased thymocyte number ( J:157170 )

• decreased thymus cellularity

• decreased Lin- thymocyte numbers

• normal bone marrow cellularity

decreased testis weight ( J:157170 )

♂ • 90% reduction compared to wild-type

immune system

decreased mast cell number ( J:157170 )

• severely reduced mast cell numbers per centimeter skin compared to wild-type as assessed by toluidine blue staining

• reduced peritoneal mast cell numbers

decreased T cell number ( J:157170 )

decreased thymocyte number ( J:157170 )

• decreased thymus cellularity

• decreased Lin- thymocyte numbers

• normal bone marrow cellularity

decreased double-negative T cell number ( J:157170 )

• decreased CD44+CD25+, CD44-CD25+, and CD44-CD25- in CD3-/CD8-/CD4- thymocyte subsets

decreased double-positive T cell number ( J:157170 )

• decreased CD4+/CD8+ double positive cells

integument

absent coat pigmentation ( J:157170 )

• white with black eyes and residual pigmentation on ear tips and snout

cellular

azoospermia ( J:157170 )

♂ • absence of developing germ cells in the testis and mature sperm in the epididymis in adult mice

♂ • multilayered seminiferous epithelia with mature sperm lining the lumen at 4 weeks

♂ • gradual loss of germ cells starting at 4 weeks, resulting in empty tubules by 8 weeks

Genotype
MGI:4430872

ht2

• Allelic Composition: Kitl^tm3.1Pbes/Kitl⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

pigmentation

belly spot ( J:157170 )

• unaffected pigmentation except for a white belly spot

integument

belly spot ( J:157170 )

• unaffected pigmentation except for a white belly spot