Phenotypes Associated with This Genotype

Genotype
MGI:3588490

• Allelic Composition: Gdnf^tm1Lmgd/Gdnf⁺
• Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6) or (involves: 129/Sv * CD-1)

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:73922 )

• low, but highly significant, preweaning lethality

• Background Sensitivity: 17.1% preweaning lethality on the C57BL/6 background and 8.4% preweaning lethality on the CD-1 background which increased to 16.7% after interbreeding of offspring on the CD-1 background

renal/urinary system

single kidney ( J:73922 )

• 10% exhibit unilateral kidney agenesis

nervous system

abnormal enteric ganglia morphology ( J:73922 )

• 64% reduction of ganglionic cells in the ileocecum and colon and 50% reduction in the stomach and small intestine

• exhibit aganglionic regions interspersed along the hypoganglionic regions of the intestine

abnormal myenteric nerve plexus morphology ( J:73922 )

• hypoganglionisis, as indicated by reduced numbers and mesh density of ganglionic cells in both the myenteric and the submucosal plexus formations of the gastrointestinal tract

abnormal submucous nerve plexus morphology ( J:73922 )

• hypoganglionisis, as indicated by reduced numbers and mesh density of ganglionic cells in both the myenteric and the submucosal plexus formations of the gastrointestinal tract

digestive/alimentary system

megacolon ( J:73922 )

• 84% have varying degrees of colon dilation

distended stomach ( J:73922 )

• 38.5% exhibit stomach distention

chronic constipation ( J:73922 )

• 74% exhibit fecal retention, a sign of chronic constipation

intestinal hypoperistalsis ( J:73922 )

• delayed gastric emptying of milk in newborns, indicating impaired intestinal motility

muscle

intestinal hypoperistalsis ( J:73922 )

• delayed gastric emptying of milk in newborns, indicating impaired intestinal motility

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:73922