Phenotypes Associated with This Genotype

Genotype
MGI:3522502

• Allelic Composition: Erbb2^{tm4(Erbb2)Mul}/Erbb2^tm1Haus
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/c

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

mortality/aging

perinatal lethality, complete penetrance ( J:94397 )

• although the expected numbers of mutants were present at birth, they were either stillborn or started dying immediately after birth

respiratory system

respiratory failure ( J:94397 )

• cannot breathe despite the ability to open the mouth

• unable to inflate and expand lungs, despite the lungs being vascularized and structurally intact

homeostasis/metabolism

cyanosis ( J:94397 )

nervous system

abnormal sympathetic ganglion morphology ( J:94397 )

• only partial development of the thoracic sympathetic ganglia at E12.5, with defects becoming more severe in a rostral-caudal gradient

abnormal phrenic nerve morphology ( J:94397 )

• phrenic nerves are thinned, disorganized, and discontinuous or incomplete and they lack an apparent main nerve trunk from which smaller presynaptic branches originate

defasiculated phrenic nerve ( J:94397 )

abnormal phrenic nerve innervation pattern to diaphragm ( J:94397 )

• diaphragm muscle is very poorly innervated by the phrenic nerve

cellular

defasiculated phrenic nerve ( J:94397 )