Phenotypes Associated with This Genotype

Genotype
MGI:2654632

• Allelic Composition: Erbb2^tm1Klee/Erbb2^tm1Klee; Tg(Nes-cre)1Atp/0
• Genetic Background: involves: C57BL/6 * FVB/N

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

mortality/aging

premature death ( J:81239 )

• death between 3 and 8 weeks of age

digestive/alimentary system

abnormal colon morphology ( J:81239 )

• mutants exhibit a constricted distal colon and a distended proximal colon

• mutants show an increase in the number of apoptotic cells in the myenteric layer of the colon, but no difference in apoptosis in the mucosa

growth/size/body

decreased body size ( J:81239 )

• starting at 2 weeks after birth, mutants become noticeably smaller than controls

• mutants are often less than half the size of controls at time of death

postnatal growth retardation ( J:81239 )

• starting at 2 weeks after birth, mutants become noticeably smaller than controls

distended abdomen ( J:81239 )

nervous system

abnormal enteric ganglia morphology ( J:81239 )

• loss of enteric glia in the colon by 3-4 weeks of age

abnormal enteric neuron morphology ( J:81239 )

• progressive postnatal loss of enteric neurons in the colon but not the intestine, such that there is a 55% decrease in enteric neurons at P24

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:81239