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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gfra1tm3Jmi
targeted mutation 3, Jeffrey Milbrandt
MGI:3774317
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gfra1tm3Jmi/Gfra1tm3Jmi involves: 129X1/SvJ MGI:3783342
cn2
 		Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+ 		involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ MGI:4456175
cn3
 		Gfra1tm2Jmi/Gfra1tm3Jmi
Tg(Hoxb7-cre)13Amc/0 		involves: 129X1/SvJ * C57BL/6 MGI:5514419
cx4
 		Egr3tm1Jmi/Egr3tm1Jmi
Gfra1tm3Jmi/Gfra1+ 		involves: 129X1/SvJ MGI:4456173
cx5
 		Gfra1tm3Jmi/Gfra1tm3Jmi
Rettm14(Gfra1)Jmi/Ret+ 		involves: 129X1/SvJ MGI:3801035
cx6
 		Egr3tm1Jmi/Egr3tm1Jmi
Gfra1tm3Jmi/Gfra1+
Tg(Hlxb9-GFP)1Tmj/0 		involves: 129X1/SvJ * C57BL/6 * SJL MGI:4456172


Genotype
MGI:3783342
hm1
Allelic
Composition		 Gfra1tm3Jmi/Gfra1tm3Jmi
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:130616 )
• all homozygotes die perinatally

nervous system
abnormal nervous system morphology ( J:130616 )
• arborized branches of the brachial nerves that target the latissimus dorsi and cutaneous maximus muscles are lost in embryos
abnormal muscle spindle morphology ( J:132854 )
• reduced fusimotor innervation of muscle spindles
• however, muscle spindle innervation is normal in Rectus femoris
absent enteric neurons ( J:130616 )
• loss of enteric neurons is seen as early as E10.5
• loss of esophageal enteric neurons in newborns
abnormal motor neuron morphology ( J:130616 )
• majority of PEA3+ motor neurons (detected as Islet1+HB9+ cells) in the spinal cord are shifted dorsally in mutant embryos
abnormal motor neuron innervation pattern ( J:132854 )
• motor innervation to superior gluteus maximus and tensor facia latae is disrupted
• lack innervation to posterior Psoas major
decreased motor neuron number ( J:132854 )
• loss of more than 20% of motor neurons at the lumbar level
• elevated apoptosis of motor neurons between 13.5 and E15.5

renal/urinary system
absent kidney ( J:130616 )
• loss of kidneys is seen as early as E11.5
impaired branching involved in ureteric bud morphogenesis ( J:130616 )
• ureteric bud in embryos fails to grow out from the Wolffian duct or to branch properly

muscle
abnormal muscle spindle morphology ( J:132854 )
• reduced fusimotor innervation of muscle spindles
• however, muscle spindle innervation is normal in Rectus femoris




Genotype
MGI:4456175
cn2
Allelic
Composition		 Erbb2tm1Haus/Erbb2tm1Klee
Gfra1tm3Jmi/Gfra1+
Myf5tm3(cre)Sor/Myf5+
Genetic
Background		 involves: 129S4/SvJae * 129S4/SvJaeSor * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Erbb2tm1Haus mutation (0 available); any Erbb2 mutation (59 available)
Erbb2tm1Klee mutation (0 available); any Erbb2 mutation (59 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Myf5tm3(cre)Sor mutation (1 available); any Myf5 mutation (17 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal cholinergic neuron morphology ( J:160727 )
• the number of cholinergic motor neurons is decreased compared to in wild-type mice
decreased motor neuron number ( J:160727 )
• the number of cholinergic motor neurons is decreased compared to in wild-type mice
• mice exhibit a reduction in small Gfra1+ motor neurons compared with wild-type mice
• loss of gamma-motor neurons is intermediate to wild-type mice and Egr3tm1Jmi homozygotes
• mice exhibit a decrease in large diameter motor neurons compared with wild-type mice




Genotype
MGI:5514419
cn3
Allelic
Composition		 Gfra1tm2Jmi/Gfra1tm3Jmi
Tg(Hoxb7-cre)13Amc/0
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1tm2Jmi mutation (0 available); any Gfra1 mutation (31 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Tg(Hoxb7-cre)13Amc mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
absent kidney ( J:199323 )
• at P0, most have bilateral kidney agenesis/aplasia (16/20)
single kidney ( J:199323 )
• at P0, a few pups (3/20) have unilateral kidney agenesis and contralateral megaureter
large ureter ( J:199323 )
• at P0, a few pups (3/20) have unilateral kidney agenesis and contralateral megaureter




Genotype
MGI:4456173
cx4
Allelic
Composition		 Egr3tm1Jmi/Egr3tm1Jmi
Gfra1tm3Jmi/Gfra1+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr3tm1Jmi mutation (2 available); any Egr3 mutation (15 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal cholinergic neuron morphology ( J:160727 )
• mice exhibit selective loss of small cholinergic neurons unlike wild-type mice
• total numbers of cholinergic neurons in the L4-5 section of the spinal cord is decreased compared to in wild-type mice
decreased motor neuron number ( J:160727 )
• total numbers of cholinergic neurons in the L4-5 section of the spinal cord is decreased compared to in wild-type mice




Genotype
MGI:3801035
cx5
Allelic
Composition		 Gfra1tm3Jmi/Gfra1tm3Jmi
Rettm14(Gfra1)Jmi/Ret+
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Rettm14(Gfra1)Jmi mutation (0 available); any Ret mutation (53 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:130616 )
• mutants exhibit no deficits in enteric neurons, motor neurons, Schwann cells, regenerating nerves, ureteric bud and kidney development and no abnormalities in the olfactory bulb




Genotype
MGI:4456172
cx6
Allelic
Composition		 Egr3tm1Jmi/Egr3tm1Jmi
Gfra1tm3Jmi/Gfra1+
Tg(Hlxb9-GFP)1Tmj/0
Genetic
Background		 involves: 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr3tm1Jmi mutation (2 available); any Egr3 mutation (15 available)
Gfra1tm3Jmi mutation (0 available); any Gfra1 mutation (31 available)
Tg(Hlxb9-GFP)1Tmj mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal cholinergic neuron morphology ( J:160727 )
• mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice
abnormal motor neuron morphology ( J:160727 )
• surviving Gfra1+ motor neurons exhibit somatic shrinkage and morphological evidence of degeneration unlike in wild-type mice
decreased motor neuron number ( J:160727 )
• Gfra1+, cholinergic, Gfa1+ HB9-GFP-, and Gfra1+ HB9-GFP+ motor neurons are reduced compared to in wild-type mice
• mice exhibit a loss of small diameter cholinergic motor neurons compared with wild-type mice
• however, the number of large diameter motor neurons is normal
motor neuron degeneration ( J:160727 )
• surviving Gfra1+ motor neurons exhibit somatic shrinkage and morphological evidence of degeneration unlike in wild-type mice




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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory