Phenotypes associated with this allele

• Allele Symbol: Pax3^Sp-1Wli
• Allele Name: splotch 1 Wei Li
• Allele ID: MGI:5523956
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^Sp-1Wli/Pax3^Sp-1Wli	involves: C57BL/6J * CBA/CaJ	MGI:5523973
ht2	Pax3^Sp-1Wli/Pax3^+	involves: C57BL/6J * CBA/CaJ	MGI:5523972
cx3	Kit^Wps/Kit^+ Pax3^Sp-1Wli/Pax3^+	involves: C57BL/6J * CBA/CaJ	MGI:5523974

Genotype
MGI:5523973

hm1

• Allelic Composition: Pax3^Sp-1Wli/Pax3^Sp-1Wli
• Genetic Background: involves: C57BL/6J * CBA/CaJ

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:196572 )

• some resorbed embryos are identified around E14.5

prenatal lethality, complete penetrance ( J:196572 )

• no live offspring are produced

embryo

abnormal neural tube morphology ( J:196572 )

• at E12.5

spina bifida ( J:196572 )

• at E12.5

nervous system

abnormal neural tube morphology ( J:196572 )

• at E12.5

spina bifida ( J:196572 )

• at E12.5

exencephaly ( J:196572 )

• at E12.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:196572

Genotype
MGI:5523972

ht2

• Allelic Composition: Pax3^Sp-1Wli/Pax3⁺
• Genetic Background: involves: C57BL/6J * CBA/CaJ

pigmentation

white spotting ( J:196572 )

• symmetrical cluster of white coat on the midline of the abdomen and occasionally white spots on the back

belly spot ( J:196572 )

integument

white spotting ( J:196572 )

• symmetrical cluster of white coat on the midline of the abdomen and occasionally white spots on the back

belly spot ( J:196572 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:196572

Genotype
MGI:5523974

cx3

• Allelic Composition: Kit^Wps/Kit⁺; Pax3^Sp-1Wli/Pax3⁺
• Genetic Background: involves: C57BL/6J * CBA/CaJ

pigmentation

white spotting ( J:196572 )

• extensive white spotting than in mice heterozygous for either allele with pigment loss throughout the belly and much of the back and occasionally the head

belly spot ( J:196572 )

integument

white spotting ( J:196572 )

• extensive white spotting than in mice heterozygous for either allele with pigment loss throughout the belly and much of the back and occasionally the head

belly spot ( J:196572 )