Phenotypes associated with this allele

• Allele Symbol: Kit^tm2Ber
• Allele Name: targeted mutation 2, Alan Bernstein
• Allele ID: MGI:3045802
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kit^tm2Ber/Kit^tm2Ber	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3045952
ht2	Kit^tm2Ber/Kit^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3045953
ht3	Kit^tm2Ber/Kit^tm3.1Bsm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:4358553

Genotype
MGI:3045952

hm1

• Allelic Composition: Kit^tm2Ber/Kit^tm2Ber
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:89602 )

• ~20% died within 12 hours of birth

• surviving mice lived for at least 1 year

pigmentation

abnormal coat/hair pigmentation ( J:89602 )

absent coat pigmentation ( J:89602 )

• in regions where the coat was white, melanin pigment was absent from the hair shafts and melanocytes were absent from the hair bulbs

white spotting ( J:89602 )

variable depigmentation ( J:89602 )

• observed in 10% to 15% of mice

• >90% of the body surface area white except around the ear

digestive/alimentary system

digestive/alimentary phenotype ( J:89602 )

N • neither stomach or intestinal distension were observed as was in Kit^{tm3Ber/tm3Ber} mice

hematopoietic system

decreased mast cell number ( J:89602 )

• reduced number of mast cells in the peritoneal cavity, and the stomach

• normal number of mast cell precursor cells and it was possible to derive mast cells from the bone marrow

immune system

immune system phenotype ( J:89602 )

N • splenomegaly was not observed, as it was in Kit^{tm3Ber/tm3Ber} mice

decreased mast cell number ( J:89602 )

• reduced number of mast cells in the peritoneal cavity, and the stomach

• normal number of mast cell precursor cells and it was possible to derive mast cells from the bone marrow

reproductive system

reproductive system phenotype ( J:89602 )

N • mice were fully fertile

integument

abnormal coat/hair pigmentation ( J:89602 )

absent coat pigmentation ( J:89602 )

• in regions where the coat was white, melanin pigment was absent from the hair shafts and melanocytes were absent from the hair bulbs

white spotting ( J:89602 )

variable depigmentation ( J:89602 )

• observed in 10% to 15% of mice

• >90% of the body surface area white except around the ear

Genotype
MGI:3045953

ht2

• Allelic Composition: Kit^tm2Ber/Kit⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:89602 )

• ~10% died during the neonatal period

• most heterozygotes survived for at least 1 year

pigmentation

absent coat pigmentation ( J:89602 )

• in regions where the coat was white, melanin pigment was absent from the hair shafts and melanocytes were absent from the hair bulbs

white spotting ( J:89602 )

variable depigmentation ( J:89602 )

• observed in 2% to 5% of mice

• >90% of the body surface area white except around the ear

reproductive system

reproductive system phenotype ( J:89602 )

N • mice were fully fertile

integument

absent coat pigmentation ( J:89602 )

• in regions where the coat was white, melanin pigment was absent from the hair shafts and melanocytes were absent from the hair bulbs

white spotting ( J:89602 )

variable depigmentation ( J:89602 )

• observed in 2% to 5% of mice

• >90% of the body surface area white except around the ear

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