Phenotypes Associated with This Genotype

Genotype
MGI:5635983

• Allelic Composition: Mitf^mi-bw/Mitf^mi-bw; Tg(Dct-lacZ)A12Jkn/0
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6J * CBA

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

pigmentation

absent hair follicle melanin granules ( J:213982 )

• lack of melanin

absent coat pigmentation ( J:213982 )

• white coat color, however eyes are black

decreased melanocyte number ( J:213982 )

• no melanocytes are seen in the hair follicles

embryo

abnormal melanoblast migration ( J:213982 )

• in neural tube cultures, melanoblasts are unable to migrate out from the neural tube

abnormal melanoblast morphology ( J:213982 )

• decrease in the number of melanoblasts between E12.5 and E13.5, with absence of melanoblasts in the trunk region at E13.5

• increase in melanoblast apoptosis at E12.5

integument

absent hair follicle melanin granules ( J:213982 )

• lack of melanin

absent coat pigmentation ( J:213982 )

• white coat color, however eyes are black

nervous system

abnormal melanoblast morphology ( J:213982 )

• decrease in the number of melanoblasts between E12.5 and E13.5, with absence of melanoblasts in the trunk region at E13.5

• increase in melanoblast apoptosis at E12.5

cellular

abnormal melanoblast migration ( J:213982 )

• in neural tube cultures, melanoblasts are unable to migrate out from the neural tube

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:213982