Phenotypes associated with this allele

• Allele Symbol: Pax7^tm2Pgr
• Allele Name: targeted mutation 2, Peter Gruss
• Allele ID: MGI:3047633
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax7^tm2Pgr/Pax7^tm2Pgr	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S2/SvPas * C57BL/6)	MGI:3603150
hm2	Pax7^tm2Pgr/Pax7^tm2Pgr	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S2/SvPas)	MGI:3603149
cx3	Pax3^tm1Buck/Pax3^tm1Buck Pax7^tm2Pgr/Pax7^tm2Pgr	either: (involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ) or (involves: 129P2/OlaHsd * 129S2/SvPas)	MGI:3603041

Genotype
MGI:3603150

hm1

• Allelic Composition: Pax7^tm2Pgr/Pax7^tm2Pgr
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6) or (involves: 129S2/SvPas * C57BL/6)

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

muscle

decreased satellite cell number ( J:92280 )

• satellite cells are present but reduced in number

abnormal muscle regeneration ( J:92280 )

• regeneration after a freeze-crush injury is severely impaired with areas of proper regeneration mixed with areas containing disarranged myotubes and necrotic material

Genotype
MGI:3603149

hm2

• Allelic Composition: Pax7^tm2Pgr/Pax7^tm2Pgr
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S2/SvPas)

mortality/aging

postnatal lethality, incomplete penetrance ( J:32018 )

• about 97% of homozygotes die within 3 weeks of birth

craniofacial

short maxilla ( J:32018 )

• the maxilla is shortened in the anterior-posterior direction

abnormal nasal capsule morphology ( J:32018 )

• the inferior lateral portion of the nasal capsule is absent at E14.5 and in neonates

pointed snout ( J:32018 )

respiratory system

abnormal nasal capsule morphology ( J:32018 )

• the inferior lateral portion of the nasal capsule is absent at E14.5 and in neonates

endocrine/exocrine glands

abnormal serous gland morphology ( J:32018 )

• the tubules of serous glands associated with the middle meatus and nasal septum are reduced in number

growth/size/body

short maxilla ( J:32018 )

• the maxilla is shortened in the anterior-posterior direction

abnormal nasal capsule morphology ( J:32018 )

• the inferior lateral portion of the nasal capsule is absent at E14.5 and in neonates

pointed snout ( J:32018 )

postnatal growth retardation ( J:32018 )

• growth retardation can be seen within a few days of birth

digestive/alimentary system

abnormal small intestine morphology ( J:32018 )

• homozygotes that survive to adulthood are unhealthy and have dilations in the small intestine and appendix

skeleton

short maxilla ( J:32018 )

• the maxilla is shortened in the anterior-posterior direction

abnormal nasal capsule morphology ( J:32018 )

• the inferior lateral portion of the nasal capsule is absent at E14.5 and in neonates

Genotype
MGI:3603041

cx3

• Allelic Composition: Pax3^tm1Buck/Pax3^tm1Buck; Pax7^tm2Pgr/Pax7^tm2Pgr
• Genetic Background: either: (involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ) or (involves: 129P2/OlaHsd * 129S2/SvPas)

mortality/aging

prenatal lethality, complete penetrance ( J:99365 )

• double homozygotes die at mid-gestation

muscle

abnormal myotome development ( J:99365 )

• at E11.5 there is a significant decrease in the differentiated muscle cells and by E13.5 only a few muscle fibers are present

• increased apoptosis is seen at E11.5 unlike in Pax3 single homozygotes

• progenitor cells at later embryonic and fetal stages are not specified as skeletal muscle