Phenotypes associated with this allele

• Allele Symbol: Kit^tm3.1Bsm
• Allele Name: targeted mutation 3.1, Peter Besmer
• Allele ID: MGI:3044953
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kit^tm3.1Bsm/Kit^tm3.1Bsm	B6.129S1-Kit^tm3.1Bsm	MGI:4358554
hm2	Kit^tm3.1Bsm/Kit^tm3.1Bsm	involves: 129S1/Sv * C57BL/6	MGI:4358482
ht3	Kit^tm2Ber/Kit^tm3.1Bsm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:4358553
ht4	Kit^tm3.1Bsm/Kit^W	involves: 129S1/Sv * C57BL/6	MGI:4358486

Genotype
MGI:4358554

hm1

• Allelic Composition: Kit^tm3.1Bsm/Kit^tm3.1Bsm
• Genetic Background: B6.129S1-Kit^tm3.1Bsm

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

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:146561 )

• mice treated with a myelosuppressive dose of 5-fluorouracil (5-FU) die between 6 and 16 days post-treatment unlike similarly treated wild-type mice

hematopoietic system

abnormal stress erythropoiesis ( J:146561 )

• following phenylhydrazine (PHZ)- or 5-fluorouracil (5-FU)-induced anemia, stress-induced erythropoiesis is defective compared to in wild-type mice

abnormal proerythroblast morphology ( J:146561 )

• the ratio of Kit+ to Kit- proerythroblasts is decreased while the frequencies of Kit- erythroblasts is increased compared to in wild-type mice

• proerythroblast exhibit decreased proliferation and survival capacities compared to in wild-type mice

• following treatment with phenylhydrazine (PHZ), mice exhibit decreased frequency of bone marrow erythroid cells compared with similarly treated wild-type mice

increased erythroblast number ( J:146561 )

• mice exhibit a 2-fold increase in Kit^negCD71^high erythroblasts compared with wild-type mice

decreased erythrocyte cell number ( J:146561 )

• following treatment with EPO, red cell levels at 6 and 9 days are deficient compared to in similarly treated wild-type mice

decreased hematocrit ( J:146561 )

• following treatment with a myelosuppressive dose of 5-fluorouracil (5-FU), hematocrit levels fall markedly prior to death between 6 and 16 days post-treatment unlike in similarly treated wild-type mice

• following treatment with a standard dose of 5-FU mice exhibit decreased hematocrit levels compared with similarly treated wild-type mice

• following treatment with phenylhydrazine (PHZ), mice exhibit deficient hematocrits compared with similarly treated wild-type mice

increased mean corpuscular volume ( J:146561 )

• during recovery from a standard dose of 5-fluorouracil (5-FU) compared to in similarly treated wild-type mice

spleen hypoplasia ( J:146561 )

• following treatment with phenylhydrazine (PHZ)

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:146561 )

• following treatment with EPO, red cell levels at 6 and 9 days are deficient compared to in similarly treated wild-type mice

increased susceptibility to xenobiotic induced morbidity/mortality ( J:146561 )

• mice treated with a myelosuppressive dose of 5-fluorouracil (5-FU) die between 6 and 16 days post-treatment unlike similarly treated wild-type mice

increased physiological sensitivity to xenobiotic ( J:146561 )

• following treatment with a myelosuppressive dose of 5-fluorouracil (5-FU), mice fail to develop splenomegaly and exhibit reduced erythroblasts and hematocrit levels fall markedly prior to death between 6 and 16 days post-treatment unlike in similarly treated wild-type mice

• following treatment with a standard dose of 5-FU mice exhibit decreased hematocrit levels, red blood cell counts, and delayed recovery compared with similarly treated wild-type mice

• erythrocyte mean cell volume is increased during recovery from a standard dose of 5-fluorouracil (5-FU) compared to in similarly treated wild-type mice

• following treatment with phenylhydrazine (PHZ), mice exhibit decreased erythropoiesis, delayed recovery, deficient hematocrits, decreased spleen cellularity, a 10-fold decrease in splenic erythroblasts, and decreased bone marrow erythroid cells compared with similarly treated wild-type mice

immune system

spleen hypoplasia ( J:146561 )

• following treatment with phenylhydrazine (PHZ)

Genotype
MGI:4358482

hm2

• Allelic Composition: Kit^tm3.1Bsm/Kit^tm3.1Bsm
• Genetic Background: involves: 129S1/Sv * C57BL/6

reproductive system

reproductive system phenotype ( J:90485 )

N • unlike in other Kit mutants, spermatogenesis is normal

immune system

immune system phenotype ( J:90485 )

N • steady-state white blood cell numbers are normal

abnormal B cell differentiation ( J:90485 )

• at 14 months, mice exhibit a reduction in fractions B, C, and D of developing B cells compared to in wild-type mice

• however, the A and F fractions are normal

abnormal T cell differentiation ( J:90485 )

• beginning at 6 months and peaking at 9 months, TN1 cells are increased while TN2 and TN3 T cells are decreased compared to in wild-type mice

• at 9 months the TN1 subset is 3-fold larger than in wild-type mice

• the TN2, TN3, and TN4 subsets are decreased 50%

• however, T cell differentiation at later stages is normal

decreased mast cell number ( J:90485 )

• at 18 to 24 weeks, peritoneal mast cell numbers are decreased compared to in wild-type mice

• however, the number of dorsal skin mast cells is normal

decreased B cell number ( J:90485 )

• the percentage of splenic B cells is slightly increased compared to in wild-type mice

abnormal mast cell physiology ( J:90485 )

• in culture, KitL-mediated proliferation of bone marrow-derived mast cells is enhanced compared with similarly treated wild-type cells and survival of these cells is marginally enhance

pigmentation

abnormal ventral coat pigmentation ( J:90485 )

• mice exhibit variable ventral depigmentation

hematopoietic system

hematopoietic system phenotype ( J:90485 )

N • hematocrit values and red blood cell, white blood cell, and platelet numbers are normal

abnormal B cell differentiation ( J:90485 )

• at 14 months, mice exhibit a reduction in fractions B, C, and D of developing B cells compared to in wild-type mice

• however, the A and F fractions are normal

abnormal T cell differentiation ( J:90485 )

• beginning at 6 months and peaking at 9 months, TN1 cells are increased while TN2 and TN3 T cells are decreased compared to in wild-type mice

• at 9 months the TN1 subset is 3-fold larger than in wild-type mice

• the TN2, TN3, and TN4 subsets are decreased 50%

• however, T cell differentiation at later stages is normal

decreased mast cell number ( J:90485 )

• at 18 to 24 weeks, peritoneal mast cell numbers are decreased compared to in wild-type mice

• however, the number of dorsal skin mast cells is normal

decreased B cell number ( J:90485 )

• the percentage of splenic B cells is slightly increased compared to in wild-type mice

abnormal mast cell physiology ( J:90485 )

• in culture, KitL-mediated proliferation of bone marrow-derived mast cells is enhanced compared with similarly treated wild-type cells and survival of these cells is marginally enhance

integument

abnormal ventral coat pigmentation ( J:90485 )

• mice exhibit variable ventral depigmentation

Genotype
MGI:4358553

ht3

• Allelic Composition: Kit^tm2Ber/Kit^tm3.1Bsm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

hematopoietic system

abnormal erythroid progenitor cell morphology ( J:146561 )

• growth capacities of erythroid progenitors are attenuated compared with wild-type cells

abnormal proerythroblast morphology ( J:146561 )

• erythroblast exhibit decreased proliferation capacity compared to in wild-type mice

Genotype
MGI:4358486

ht4

• Allelic Composition: Kit^tm3.1Bsm/Kit^W
• Genetic Background: involves: 129S1/Sv * C57BL/6

pigmentation

abnormal ventral coat pigmentation ( J:90485 )

• ventral depigmentation is enhanced compared to in Kit^W heterozygotes

integument

abnormal ventral coat pigmentation ( J:90485 )

• ventral depigmentation is enhanced compared to in Kit^W heterozygotes