Phenotypes associated with this allele

• Allele Symbol: Pax3^Sp-2H
• Allele Name: splotch 2 Harwell
• Allele ID: MGI:1856293
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^Sp-2H/Pax3^Sp-2H	involves: 101 * C3H/He	MGI:3770754
hm2	Pax3^Sp-2H/Pax3^Sp-2H	involves: 101 * C3H/He * CBA/Ca	MGI:2451311
hm3	Pax3^Sp-2H/Pax3^Sp-2H	involves: C57BL/6	MGI:2168108
hm4	Pax3^Sp-2H/Pax3^Sp-2H	involves: DBA/2	MGI:2451312
hm5	Pax3^Sp-2H/Pax3^Sp-2H	involves: NZW	MGI:2451313
ht6	Pax3^Sp-2H/Pax3^+	involves: 101 * C3H/He * CBA/Ca	MGI:3773637
ht7	Pax3^Sp-2H/Pax3^+	involves: C57BL/6	MGI:2169285

Genotype
MGI:3770754

hm1

• Allelic Composition: Pax3^Sp-2H/Pax3^Sp-2H
• Genetic Background: involves: 101 * C3H/He

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:46341 )

• most embryos die by E14.5 though 15 % live until birth

cardiovascular system

persistent truncus arteriosus ( J:46341 )

• 85% of E13.5 embryos display persistent truncus arteriosis (PTA)

• embryos with PTA display only one outflow tract vessel that rises predominately from the right ventricle

• the trunk appears slightly larger than the pulmonary artery of control embryos

ventricular septal defect ( J:46341 )

• a small septal defect is visible in the upper part of the ventricular septum with E13.5 embryos with persistent truncus arteriosis

dilated heart left ventricle ( J:46341 )

• in E13.5 embryos that have persistent truncus arteriosis

dilated heart right ventricle ( J:46341 )

• in E13.5 embryos that have persistent truncus arteriosis

decreased heart left ventricle muscle contractility ( J:46341 )

• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

abnormal myocardial fiber physiology ( J:46341 )

• isolated monocytes from embryonic hearts with PTA have a three-fold reduction in calcium transients

• monocytes isolated from embryos without PTA have normal calcium transients

muscle

decreased heart left ventricle muscle contractility ( J:46341 )

• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

nervous system

open neural tube ( J:46341 )

• 76% of embryos fail to close their neural tubes in culture

exencephaly ( J:46341 )

• three quarters of embryos develop exencephaly from improper neural tube closure background: three quarters of embryos develop exencephaly from improper neural tube closure background: three quarters of embryos develop exencephaly from

embryo

abnormal neural fold elevation formation ( J:46341 )

• neural folds in 76% of embryos fail to adopt a concave appearance and instead remain in a convex shape

• these embryos later in development fail to close their neural tubes

open neural tube ( J:46341 )

• 76% of embryos fail to close their neural tubes in culture

Genotype
MGI:2451311

hm2

• Allelic Composition: Pax3^Sp-2H/Pax3^Sp-2H
• Genetic Background: involves: 101 * C3H/He * CBA/Ca

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:46341 )

• most embryos die by E14.5 though 15 % live until birth

nervous system

abnormal neural tube morphology ( J:60939 )

• 80% of mutants develop neural tube defects

open neural tube ( J:46341 , J:60939 )

• 76% of embryos fail to close their neural tubes in culture (J:46341)

• 16 of 21 embryos exhibit a failure of the midbrain neural folds to adopt a concave morphology, remaining convex, resulting in an open neural tube (J:60939)

spina bifida ( J:60939 )

exencephaly ( J:46341 , J:60939 )

• three quarters of embryos develop exencephaly from improper neural tube closure (J:46341)

cardiovascular system

persistent truncus arteriosus ( J:46341 )

• 85% of E13.5 embryos display persistent truncus arteriosis (PTA)

• embryos with PTA display only one outflow tract vessel that rises predominately from the right ventricle

• the trunk appears slightly larger than the pulmonary artery of control embryos

ventricular septal defect ( J:46341 )

• a small septal defect is visible in the upper part of the ventricular septum with E13.5 embryos with persistent truncus arteriosis

dilated heart left ventricle ( J:46341 )

• in E13.5 embryos that have persistent truncus arteriosis

dilated heart right ventricle ( J:46341 )

• in E13.5 embryos that have persistent truncus arteriosis

decreased heart left ventricle muscle contractility ( J:46341 )

• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

abnormal myocardial fiber physiology ( J:46341 )

• isolated monocytes from embryonic hearts with PTA have a three-fold reduction in calcium transients

• monocytes isolated from embryos without PTA have normal calcium transients

muscle

decreased heart left ventricle muscle contractility ( J:46341 )

• left ventricular ejection fraction is reduced by almost two-thirds in E13.5 embryos that have persistent truncus arteriosis

embryo

abnormal neural fold elevation formation ( J:46341 )

• neural folds in 76% of embryos fail to adopt a concave appearance and instead remain in a convex shape

• these embryos later in development fail to close their neural tubes

abnormal neural tube morphology ( J:60939 )

• 80% of mutants develop neural tube defects

open neural tube ( J:46341 , J:60939 )

• 76% of embryos fail to close their neural tubes in culture (J:46341)

• 16 of 21 embryos exhibit a failure of the midbrain neural folds to adopt a concave morphology, remaining convex, resulting in an open neural tube (J:60939)

spina bifida ( J:60939 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:46341
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:46341

Genotype
MGI:2168108

hm3

• Allelic Composition: Pax3^Sp-2H/Pax3^Sp-2H
• Genetic Background: involves: C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:14096 )

• is observed

embryo

spina bifida ( J:14096 )

• rachischisis is observed along with other abnormalities

nervous system

spina bifida ( J:14096 )

• rachischisis is observed along with other abnormalities

muscle

abnormal muscle precursor cell migration ( J:32016 )

• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection

abnormal myogenesis ( J:18227 , J:32016 )

• at E12.5 expression of myogenin is absent from the forelimb buds (J:18227)

• limb buds from E11 embryos cultured for 4 days fail to generate any cells expressing early myogenic markers (desmin and sarcomeric myosin) (J:32016)

• however, cells from somites grafted into chick limbs are able to undergo myogenic differentiation (J:32016)

abnormal dermomyotome development ( J:32016 )

• at E9.25, premature termination of the dermamyotome at the same level as the ventral lip of the axial myotome with absence of any epithelial structure in the ventral portion

cellular

abnormal muscle precursor cell migration ( J:32016 )

• DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:14096
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:14096

Genotype
MGI:2451312

hm4

• Allelic Composition: Pax3^Sp-2H/Pax3^Sp-2H
• Genetic Background: involves: DBA/2

nervous system

open neural tube ( J:60939 )

• 86% of embryos fail to close their neural tubes in culture

spina bifida ( J:60939 )

• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background

exencephaly ( J:60939 )

• Background Sensitivity: mutants backcrossed for 4 generations onto a DBA/2 background exhibit a reduced frequency (35.7%) of cranial neural tube defects compared to mutants on a NZW background (74.3%) or a stock strain (75%)

embryo

open neural tube ( J:60939 )

• 86% of embryos fail to close their neural tubes in culture

spina bifida ( J:60939 )

• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background

Genotype
MGI:2451313

hm5

• Allelic Composition: Pax3^Sp-2H/Pax3^Sp-2H
• Genetic Background: involves: NZW

nervous system

open neural tube ( J:60939 )

• 83%% of embryos fail to close their neural tubes in culture

spina bifida ( J:60939 )

• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background

exencephaly ( J:60939 )

• mutants backcrossed for 4 generations onto a NZW background exhibit an increased frequency (74.3%) of cranial neural tube defects compared to mutants on a DBA/2 background (35.7%) but a similar frequency to mutants on a stock strain (75%)

embryo

open neural tube ( J:60939 )

• 83%% of embryos fail to close their neural tubes in culture

spina bifida ( J:60939 )

• frequency of spina bifida (82-88%) is similar on the NZW, DBA/2 or stock strain background

Genotype
MGI:3773637

ht6

• Allelic Composition: Pax3^Sp-2H/Pax3⁺
• Genetic Background: involves: 101 * C3H/He * CBA/Ca

pigmentation

belly spot ( J:46341 )

• mice had small or large belly spots

• mice with large belly spots were bred together and phenotyped

integument

belly spot ( J:46341 )

• mice had small or large belly spots

• mice with large belly spots were bred together and phenotyped

Genotype
MGI:2169285

ht7

• Allelic Composition: Pax3^Sp-2H/Pax3⁺
• Genetic Background: involves: C57BL/6

pigmentation

diluted coat color ( J:14096 )

• coat is light colored

• penetrance is only about 50%

belly spot ( J:14096 )

• white spotting occurs on the belly and often extends to the feet and tail

• this trait has incomplete penetrance

integument

diluted coat color ( J:14096 )

• coat is light colored

• penetrance is only about 50%

belly spot ( J:14096 )

• white spotting occurs on the belly and often extends to the feet and tail

• this trait has incomplete penetrance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:14096
NOT	Waardenburg syndrome type 3	DOID:0110949	OMIM:148820	J:14096