Phenotypes Associated with This Genotype

Genotype
MGI:7343896

• Allelic Composition: Bcor^tm1.1Vjba/Y; Pax3^tm1(cre)Joe/Pax3⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

cardiovascular system

cardiovascular system phenotype ( J:296645 )

♂N • persistent truncus arteriosus is not seen despite loss of expression in neural crest cells

skeleton

short Meckel's cartilage ( J:296645 )

♂ • fails to properly elongate and has a broader, curved shape at E14.5

short mandible ( J:296645 )

♂

hearing/vestibular/ear

decreased tympanic ring size ( J:296645 )

♂ • appears truncated and thicker

endocrine/exocrine glands

abnormal major salivary gland morphology ( J:296645 )

♂ • supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth

♂ • ectopic glands contain mainly serous acini but also have groups of mucous acini

behavior/neurological

absent gastric milk in neonates ( J:296645 )

♂

craniofacial

short Meckel's cartilage ( J:296645 )

♂ • fails to properly elongate and has a broader, curved shape at E14.5

short mandible ( J:296645 )

♂

failure of palatal shelf elevation ( J:296645 )

♂ • fail to rise to the horizontal position at E14.5 and E15.5

♂ • in culture palatal shelf elevation and fusion occurs similar to controls

complete cleft palate ( J:296645 )

♂ • all show severe clefting

♂ • complete cleft of both the hard and soft palates

abnormal tongue morphology ( J:296645 )

♂ • disorganized morphology

abnormal tongue position ( J:296645 )

♂ • at E14.5 the tongue fails to descend within the oral cavity

♂ • tongue remains elevated at E15.5 and E18.5

bifid tongue ( J:296645 )

♂ • in some cases

tongue ankylosis ( J:296645 )

♂

digestive/alimentary system

failure of palatal shelf elevation ( J:296645 )

♂ • fail to rise to the horizontal position at E14.5 and E15.5

♂ • in culture palatal shelf elevation and fusion occurs similar to controls

complete cleft palate ( J:296645 )

♂ • all show severe clefting

♂ • complete cleft of both the hard and soft palates

abnormal tongue morphology ( J:296645 )

♂ • disorganized morphology

abnormal tongue position ( J:296645 )

♂ • at E14.5 the tongue fails to descend within the oral cavity

♂ • tongue remains elevated at E15.5 and E18.5

bifid tongue ( J:296645 )

♂ • in some cases

tongue ankylosis ( J:296645 )

♂

abnormal major salivary gland morphology ( J:296645 )

♂ • supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth

♂ • ectopic glands contain mainly serous acini but also have groups of mucous acini

integument

pallor ( J:296645 )

♂

growth/size/body

failure of palatal shelf elevation ( J:296645 )

♂ • fail to rise to the horizontal position at E14.5 and E15.5

♂ • in culture palatal shelf elevation and fusion occurs similar to controls

complete cleft palate ( J:296645 )

♂ • all show severe clefting

♂ • complete cleft of both the hard and soft palates

abnormal tongue morphology ( J:296645 )

♂ • disorganized morphology

abnormal tongue position ( J:296645 )

♂ • at E14.5 the tongue fails to descend within the oral cavity

♂ • tongue remains elevated at E15.5 and E18.5

bifid tongue ( J:296645 )

♂ • in some cases

tongue ankylosis ( J:296645 )

♂

mortality/aging

neonatal lethality, complete penetrance ( J:296645 )

♂ • fail to thrive and die within a few hours of birth