Phenotypes Associated with This Genotype

Genotype
MGI:3588431

• Allelic Composition: Gdnf^tm1Lmgd/Gdnf^tm1Lmgd
• Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129S1/Sv * 129X1/SvJ)

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

mortality/aging

neonatal lethality, complete penetrance ( J:33810 )

• die 12-24 hours after birth

renal/urinary system

abnormal kidney development ( J:33810 )

• severe renal dysgenesis or renal agenesis

• metanephric development is halted between E11 and E14.5

absent kidney ( J:33810 )

impaired branching involved in ureteric bud morphogenesis ( J:33810 )

• delayed or total absence of ureteric branching in cultured urogenital blocks

absent ureteric bud ( J:33810 )

• ureteric bud is absent in most mice

nervous system

abnormal enteric cholinergic neuron morphology ( J:33810 )

• devoid of enteric parasympathetic cholinergic ganglion cells

absent enteric neurons ( J:33810 )

• neurons of the myenteric plexus are absent from the intestine

digestive/alimentary system

intestinal hypoperistalsis ( J:33810 )

• presence of milk in the oesophagus and reduced progression of food into the gastrointestinal tract

muscle

intestinal hypoperistalsis ( J:33810 )

• presence of milk in the oesophagus and reduced progression of food into the gastrointestinal tract

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:33810