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Phenotypes Associated with This Genotype
Genotype
MGI:2175040
Allelic
Composition
Gfra1tm1Jmi/Gfra1tm1Jmi
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1tm1Jmi mutation (0 available); any Gfra1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within 24 hours of birth

renal/urinary system
• 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
• most homozygotes lack both kidneys, however some show unilateral or bilateral renal dysgenesis
• newborns have empty bladders with a thickened wall
• formation of ureteric bud is disrupted in E11.5 embryos
• 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
• the stomach shows a reduction in enteric nervous system plexus density
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory