Phenotypes Associated with This Genotype

Genotype
MGI:2675149

• Allelic Composition: Gdnf^tm1Rosl/Gdnf⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

digestive/alimentary system

intestinal hypoperistalsis ( J:82456 )

• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

nervous system

abnormal enteric nervous system morphology ( J:82456 )

• reduction in enteric nervous system precursor proliferation

abnormal enteric ganglia morphology ( J:82456 )

• hypoganglionic enteric nervous system

abnormal enteric neuron morphology ( J:82456 )

• 43% fewer small bowel neurons and 48% fewer colonic myenteric neurons, however acetylcholinesterase-stained myenteric plexus fiber counts in both the colon and small bowel and cell sizes of enteric neurons are normal

abnormal neurotransmitter secretion ( J:82456 )

• 70-95% reduction in substance P and VIP release

muscle

intestinal hypoperistalsis ( J:82456 )

• decrease in both longitudinal and circular muscle contraction of the intestine in response to electric field stimulation

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:82456