Phenotypes associated with this allele

• Allele Symbol: Pax3^{tm3.1(Pax7)Buck}
• Allele Name: targeted mutation 3.1, Margaret Buckingham
• Allele ID: MGI:3047632
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax3^tm3.1(Pax7)Buck/Pax3^tm3.1(Pax7)Buck	involves: 129S2/SvPas	MGI:3047704
ht2	Pax3^tm3.1(Pax7)Buck/Pax3^Sp	involves: 129S2/SvPas	MGI:3047709

Genotype
MGI:3047704

hm1

• Allelic Composition: Pax3^{tm3.1(Pax7)Buck}/Pax3^{tm3.1(Pax7)Buck}
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

perinatal lethality, complete penetrance ( J:90568 )

• perinatal lethality probably related to impaired diaphragm development is seen

cellular

abnormal muscle precursor cell migration ( J:90568 )

• muscle progenitors leave the somite in the ventral region but do not migrate further

decreased cell proliferation ( J:90568 )

• proliferation of the muscle progenitor cells is reduced about 40% compared to wild-type

muscle

abnormal muscle precursor cell migration ( J:90568 )

• muscle progenitors leave the somite in the ventral region but do not migrate further

abnormal muscle development ( J:176192 )

• forelimb muscles are reduced

abnormal diaphragm development ( J:90568 )

• development of the diaphragm is impaired as a result of impaired progenitor cell migration

abnormal myogenesis ( J:90568 )

• at E11.5 distal ventral limb muscles are absent and distal dorsal and proximal limb muscles are reduced and incorrectly patterned compared to wild-type

• this proximal to distal gradation in muscle loss is also seen at E15.5

• hindlimb muscles are normal

nervous system

nervous system phenotype ( J:90568 )

N • neural tube closure and neural crest cell migration are normal

integument

integument phenotype ( J:90568 )

N • no melanocyte abnormalities are seen

embryo

embryo phenotype ( J:176192 )

N • dorsal neural tube closure and somite development observed in Pax3 null mice are rescued

Genotype
MGI:3047709

ht2

• Allelic Composition: Pax3^{tm3.1(Pax7)Buck}/Pax3^Sp
• Genetic Background: involves: 129S2/SvPas

mortality/aging

perinatal lethality, complete penetrance ( J:90568 )

• perinatal lethality probably related to impaired diaphragm development is seen

cellular

decreased cell proliferation ( J:90568 )

• proliferation of the muscle progenitor cells is reduced about 40% compared to wild-type

muscle

abnormal diaphragm development ( J:90568 )

• development of the diaphragm is impaired as a result of impaired progenitor cell migration

abnormal myogenesis ( J:90568 )

• forelimb muscles and hindlimb palm muscles are absent and hindlimb muscles are reduced

nervous system

spina bifida ( J:90568 )

• failure of neural tube closure is seen at about the same rate as in Pax3^Sp heterozygotes

embryo

spina bifida ( J:90568 )

• failure of neural tube closure is seen at about the same rate as in Pax3^Sp heterozygotes

integument

integument phenotype ( J:90568 )

N • no melanocyte abnormalities are seen