Phenotypes associated with this allele

• Allele Symbol: Gfra1^tm1Rosl
• Allele Name: targeted mutation 1, Arnon Rosenthal
• Allele ID: MGI:1934205
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gfra1^tm1Rosl/Gfra1^tm1Rosl	B6.129-Gfra1^tm1Rosl	MGI:3757645
hm2	Gfra1^tm1Rosl/Gfra1^tm1Rosl	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)	MGI:2176928

Genotype
MGI:3757645

hm1

• Allelic Composition: Gfra1^tm1Rosl/Gfra1^tm1Rosl
• Genetic Background: B6.129-Gfra1^tm1Rosl

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

nervous system

abnormal innervation pattern to muscle ( J:78718 )

• nerves to the cutaneous maximus and latissimus dorsi are missing or with reduced numbers of fibers by E11.5 to E12.5

decreased motor neuron number ( J:78718 )

• reduced numbers of motor neurons expressing Pea3 in the lateral motor colomn of segments C5 to C8 of the spinal cord at E12.5

abnormal spinal nerve morphology ( J:78718 )

• caudal nerve branches from the brachial plexus to the cutaneous maximus and latissimus dorsi become atrophied and misrouted by E11

abnormal spinal cord lateral motor column morphology ( J:78718 )

• reduced numbers of motor neurons expressing Pea3 in the lateral motor colomn of segments C5 to C8 of the spinal cord at E12.5

Genotype
MGI:2176928

hm2

• Allelic Composition: Gfra1^tm1Rosl/Gfra1^tm1Rosl
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1)

mortality/aging

neonatal lethality, incomplete penetrance ( J:68750 )

• homozygotes die between 1 and 1.5 days after birth

behavior/neurological

behavior/neurological phenotype ( J:68750 )

N • initially able to suckle

N • initially show normal limb and body movements

nervous system

abnormal enteric neuron morphology ( J:68750 )

• very few enteric neurons in the stomach

absent enteric neurons ( J:68750 )

• enteric neurons belonging to myenteric and submucosal plexi of the intestine and colon are absent

loss of dopaminergic neurons ( J:68750 )

• fail to survive in the presence of GDNF although parasympathetic and submandibular neurons will survive

abnormal somatic nervous system morphology ( J:68750 )

small petrosal ganglion ( J:68750 )

• 15% loss of petrosal-nodose sensory ganglion neurons

abnormal nodose ganglion morphology ( J:68750 )

• neurons fail to survive in the presence of GDNF

abnormal trigeminal nerve morphology ( J:68750 )

• loss of about 22% of trigeminal motor neurons

abnormal spinal nerve morphology ( J:68750 )

• loss of about 24% of lumbar spinal neurons

renal/urinary system

abnormal kidney morphology ( J:68750 )

• bilateral kidney and uretal deficiency

absent nephron ( J:68750 )

• no nephrons

absent ureter ( J:68750 )

absent ureteric bud ( J:68750 )

• fails to form

immune system

decreased Peyer's patch number ( J:120816 )

• fewer patches but patches are well formed

embryo

abnormal Wolffian duct morphology ( J:68750 )

• mesonephric duct is present at E12.5 but derivative structures do not form