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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Gfra3tm1Hmd
targeted mutation 1, Hiroshi Hamada
MGI:2136781
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Gfra3tm1Hmd/Gfra3tm1Hmd involves: 129P2/OlaHsd * C57BL/6Cr MGI:2651730


Genotype
MGI:2651730
hm1
Allelic
Composition
Gfra3tm1Hmd/Gfra3tm1Hmd
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6Cr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra3tm1Hmd mutation (1 available); any Gfra3 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at P5, mutant SCGs display increased apoptotic cell death relative to wild-type SCGs
• homozygotes exhibit a defect in the final positioning (i.e. rostral migration) of SCG precursors between E11.5 and E14.5
• adult homozygotes display either absence or a severe size reduction of the superior cervical ganglion (SCG)
• at P1, many mutant SCG neurons appear immature showing a small cell body and nucleus and absence of nucleoli, and exhibit a significant reduction in Ret expression suggestive of improper differentiation
• however, no significant differences are observed in other PNS ganglia, in the enteric nervous system, or in the cell number and location of developing DRG and trigeminal ganglia relative to wild-type mice
• the SCG may be absent in adult homozygotes
• the size of SCG may be severely reduced in adult homozygotes
• adult homozygotes exhibit an abnormal SCG with only a few neuronal cells, some of which appear to be undergoing degeneration
• although the mutant SCG cell number is normal at E11.5, it reaches 60%-80% of wild-type values between E12.5 and P1, and is only 50% and 0%-5% of wild-type values at P7 and P60, respectively, indicating progressive SCG cell death after birth
• unlike wild-type mice, adult homozygotes show lack of sympathetic innervation by SCG neurons, as evidenced by the absence of TH-positive fibers in the submandibular gland and the superior tarsus muscles
• impaired projection of SCG neurons is already noted at P1, prior to the occurrence of progressive cell death (P5)
• in contrast, ChAT-positive parasympathetic fibers are detectable in the submandibular gland and the superior tarsus muscles, and the parasympathetic ganglia that innervate the submandibular gland remain unaffected

vision/eye
• adult homozygotes exhibit ptosis in the absence of other external abnormalities

cellular
• at P5, mutant SCGs display increased apoptotic cell death relative to wild-type SCGs
• homozygotes exhibit a defect in the final positioning (i.e. rostral migration) of SCG precursors between E11.5 and E14.5





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory