Phenotypes associated with this allele

• Allele Symbol: Pax3^{tm2.1(PAX3/FOXO1A)Buck}
• Allele Name: targeted mutation 2.1, Margaret E Buckingham
• Allele ID: MGI:2687299
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:2687394
cn2	Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^Sp	involves: 129S2/SvPas * BALB/c * C57BL * C57BL/6	MGI:2687400
cx3	Met^tm1Cpo/Met^+ Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^+	involves: 129 * BALB/c * C57BL/6	MGI:3690114
cx4	Met^tm1Cpo/Met^tm1Cpo Pax3^tm2.1(PAX3/FOXO1A)Buck/Pax3^+	involves: 129 * BALB/c * C57BL/6	MGI:3690115

Genotype
MGI:2687394

cn1

• Allelic Composition: Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3⁺
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:86911 )

• no live newborns are seen

muscle

abnormal muscle development ( J:86911 )

• abnormal delamination of Pax3 expressing cells results in ectopic muscle formation in the thoracic region

abnormal myogenesis ( J:86911 )

• cells expressing myogenic determination factors (Myod1 and Myf5) are seen extending from the peripheral somites into the limb bud, unlike in wild-type mice where expression is confined to the limb buds

abnormal dermomyotome development ( J:86911 )

• at E10.5, complete loss of the hypaxial epithelium is seen and ectopic Pax3 expressing cells are found outside the somite

• at E10.75, in hypaxial somites the dermomyotome is not clearly separated from the myotome and the basal lamina is absent

• at E10.75, epithelial structure is perturbed and defects are seen in the basal lamina in thoracic somites

abnormal myotome morphology ( J:86911 )

• in the cervical region at E11.5 myotomal muscles show bifurcations; however, by E12.5 morphology is largely normal

abnormal skeletal muscle morphology ( J:86911 )

• loss of ventral body muscles

• segmental form of the rectus-abdominis muscle in not identifiable

abnormal intercostal muscle morphology ( J:86911 )

• disorganized

embryo

abnormal somite development ( J:86911 )

• disorganized boundaries between the hypaxial somites; however the full extent of the somite is present

• at E10.5, abnormal delamination of Pax3 expressing cells is seen in the hypaxial region thoracic somite structure is disorganized

• at E11.5 somites of the cervical region are disorganized

abnormal somite border morphology ( J:86911 )

• disorganized boundaries between the hypaxial somites

skeleton

rib fusion ( J:86911 )

• distal rib fusions identifiable at E18.5

Genotype
MGI:2687400

cn2

• Allelic Composition: Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3^Sp
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:86911 )

• phenotype is stated to be similar to Pax3^{tm2.1(PAX3/FOXO1A)Buck} heterozygotes

embryo

abnormal somite border morphology ( J:86911 )

• disorganized boundaries between the hypaxial somites; however, none of the defects seen in Pax3^Sp homozygotes are present in these mice

muscle

abnormal muscle development ( J:86911 )

• phenotype is stated to be similar to Pax3^{tm2.1(PAX3/FOXO1A)Buck} heterozygotes

skeleton

abnormal rib development ( J:86911 )

• phenotype is stated to be similar to Pax3^{tm2.1(PAX3/FOXO1A)Buck} heterozygotes

Genotype
MGI:3690114

cx3

• Allelic Composition: Met^tm1Cpo/Met⁺; Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3⁺
• Genetic Background: involves: 129 * BALB/c * C57BL/6

embryo

embryo phenotype ( J:86911 )

N • ectopic somite delamination is not seen, unlike in Pax3^{tm2.1(PAX3/FOXO1A)Buck} single heterozygotes

Genotype
MGI:3690115

cx4

• Allelic Composition: Met^tm1Cpo/Met^tm1Cpo; Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3⁺
• Genetic Background: involves: 129 * BALB/c * C57BL/6

embryo

embryo phenotype ( J:86911 )

N • complete rescue of the Pax3^{tm2.1(PAX3/FOXO1A)Buck} single heterozygote somite phenotype