Phenotypes Associated with This Genotype

Genotype
MGI:2175040

• Allelic Composition: Gfra1^tm1Jmi/Gfra1^tm1Jmi
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:49471 )

• die within 24 hours of birth

renal/urinary system

abnormal kidney morphology ( J:49471 )

• kidney rudiments show severe dysplasia, with disorganized distribution of small numbers of nephron components, including the proximal and distal convoluted tubules, glomeruli, and blood vessels

absent kidney ( J:49471 )

• most homozygotes lack both kidneys, however some show unilateral or bilateral renal dysgenesis

abnormal urinary bladder morphology ( J:49471 )

• newborns have empty bladders with a thickened wall

abnormal ureteric bud morphology ( J:49471 )

• formation of ureteric bud is disrupted in E11.5 embryos

abnormal ureteric bud invasion ( J:49471 )

• penetration of the metanephric mesenchyme by the ureteric bud is disrupted in E11.5 embryos and leads to a failure of mesenchymal tissue condensation

nervous system

abnormal enteric nervous system morphology ( J:49471 )

• the stomach shows a reduction in enteric nervous system plexus density

abnormal enteric ganglia morphology ( J:49471 )

• enteric ganglion cells are absent in the small and large intestine but are present in the esophagus and stomach

• ganglion cells in the stomach are dramatically reduced in number

• no ganglion cells are seen in the ileum and colon, although large nerve fibers extending proximally from the distal colon are apparent

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:49471