Phenotypes Associated with This Genotype

Genotype
MGI:7294559

• Allelic Composition: Msx1^tm1Rilm/Msx1⁺; Pax9^tm1Rbal/Pax9^tm1Rbal
• Genetic Background: involves: 129 * CD-1

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

mortality/aging

neonatal lethality ( J:311535 )

digestive/alimentary system

cleft secondary palate ( J:311535 )

nervous system

decreased neural crest cell number ( J:311535 )

• decrease in the number of neural crest cells in the 4th pharyngeal arches at E10.5

cardiovascular system

abnormal first pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5

fourth pharyngeal arch artery hypoplasia ( J:311535 )

• at E10.5

• decrease in the number of neural crest cells at E10.5

abnormal second pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal third pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5

• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced

third pharyngeal arch artery hypoplasia ( J:311535 )

• at E9.5 but not at E10.5

abnormal aorta morphology ( J:311535 )

• cervical origin of the aorta is increased compared to homozygous mice wild-type for Msx1

aberrant origin of the right subclavian artery ( J:311535 )

• significant reduction in retro-esophageal right subclavian artery and a significant increase in cervical origin compared to homozygous mice wild-type for Msx1

interrupted aortic arch ( J:311535 )

• significant reduction in the incidence of IAA-B compared to homozygous mice wild-type for Msx1

abnormal common carotid artery morphology ( J:311535 )

• reduction in the incidence of absent common carotid arteries compared to homozygous mice wild-type for Msx1 (24% compared to 57%)

double outlet right ventricle ( J:311535 )

• only seen in a single mouse

endocrine/exocrine glands

thymus hypoplasia ( J:311535 )

• severely hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• severely hypoplastic and absent from the normal position

craniofacial

abnormal first pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5

fourth pharyngeal arch artery hypoplasia ( J:311535 )

• at E10.5

• decrease in the number of neural crest cells at E10.5

abnormal second pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal third pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5

• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced

third pharyngeal arch artery hypoplasia ( J:311535 )

• at E9.5 but not at E10.5

cleft secondary palate ( J:311535 )

embryo

abnormal first pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5

fourth pharyngeal arch artery hypoplasia ( J:311535 )

• at E10.5

• decrease in the number of neural crest cells at E10.5

abnormal second pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal third pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5

• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced

third pharyngeal arch artery hypoplasia ( J:311535 )

• at E9.5 but not at E10.5

decreased neural crest cell number ( J:311535 )

• decrease in the number of neural crest cells in the 4th pharyngeal arches at E10.5

growth/size/body

cleft secondary palate ( J:311535 )

hematopoietic system

thymus hypoplasia ( J:311535 )

• severely hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• severely hypoplastic and absent from the normal position

immune system

thymus hypoplasia ( J:311535 )

• severely hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• severely hypoplastic and absent from the normal position

limbs/digits/tail

preaxial polydactyly ( J:311535 )