Phenotypes associated with this allele

• Allele Symbol: Kit^tm3Ber
• Allele Name: targeted mutation 3, Alan Bernstein
• Allele ID: MGI:3045803
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kit^tm3Ber/Kit^tm3Ber	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3045949

Genotype
MGI:3045949

hm1

• Allelic Composition: Kit^tm3Ber/Kit^tm3Ber
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:89602 )

• the median life span ended around weaning

premature death ( J:89602 )

• most mice had died by 3 months of age, putatively due to stomach abnormalities

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 all mice

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

digestive/alimentary system

digestive/alimentary phenotype ( J:89602 )

N • no significant defects of myenteric ganglion cells or of cellular organization observed in the stomach, intestine, or colon

meteorism ( J:89602 )

• distension of the stomach, duodenum and jejunum not due to an obstructing lesion

hematopoietic system

enlarged spleen ( J:89602 )

• enlarged regions of white pulp and characteristic discrete lymphoid follicles

• cells morphologically identical to megakaryocytes were also observed

spleen hyperplasia ( J:89602 )

arrested B cell differentiation ( J:89602 )

• defect in the differentiation from pre-B cells to immature B cells

increased megakaryocyte cell number ( J:89602 )

• increased numbers of CD41⁺ megakaryocytes

decreased mast cell number ( J:89602 )

• reduced number of mast cells in the tail dermis, 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

increased B cell number ( J:89602 )

• increased numbers of B220⁺IgM⁺ B cells in spleen

immune system

enlarged spleen ( J:89602 )

• enlarged regions of white pulp and characteristic discrete lymphoid follicles

• cells morphologically identical to megakaryocytes were also observed

spleen hyperplasia ( J:89602 )

arrested B cell differentiation ( J:89602 )

• defect in the differentiation from pre-B cells to immature B cells

decreased mast cell number ( J:89602 )

• reduced number of mast cells in the tail dermis, 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

increased B cell number ( J:89602 )

• increased numbers of B220⁺IgM⁺ B cells in spleen

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 all mice

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

growth/size/body

meteorism ( J:89602 )

• distension of the stomach, duodenum and jejunum not due to an obstructing lesion

enlarged spleen ( J:89602 )

• enlarged regions of white pulp and characteristic discrete lymphoid follicles

• cells morphologically identical to megakaryocytes were also observed

spleen hyperplasia ( J:89602 )