Phenotypes associated with this allele

• Allele Symbol: Gphn^tm1Jrs
• Allele Name: targeted mutation 1, Joshua R Sanes
• Allele ID: MGI:2182559
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gphn^tm1Jrs/Gphn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ	MGI:3639779
hm2	Gphn^tm1Jrs/Gphn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3639780

Genotype
MGI:3639779

hm1

• Allelic Composition: Gphn^tm1Jrs/Gphn^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:77775 )

• born in expected numbers

• all die within 1 day of birth

behavior/neurological

abnormal suckling behavior ( J:77775 )

• fail to suckle

abnormal posture ( J:77775 )

• become rigid and hyperextended in response to tactile stimulus

hyperresponsive ( J:77775 )

• to tactile stimulus

abnormal vocalization ( J:77775 )

• no normal vocalizations

respiratory system

apnea ( J:77775 )

• by 12 hours of age

nervous system

abnormal motor neuron morphology ( J:77775 )

• failure of glycine receptors to localize at inhibitory motoneuron synapses

Genotype
MGI:3639780

hm2

• Allelic Composition: Gphn^tm1Jrs/Gphn^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

nervous system

abnormal axon extension ( J:98106 )

• decreased axon branching in the diaphragm

• increased axon branching in limb musculature

abnormal motor neuron morphology ( J:98106 )

decreased motor neuron number ( J:98106 )

• in respiratory related motor nuclei

increased motor neuron number ( J:98106 )

• in brachial lateral motor column at E15.5 and E18.5

• in lumbar lateral motor column at E16 and E19.5

motor neuron degeneration ( J:98106 )

• motoneuron survival in respiratory related motor nuclei is decreased

abnormal neuromuscular synapse morphology ( J:98106 )

• decreased neuromuscular synapse formation in the diaphragm

abnormal nervous system electrophysiology ( J:98106 )

• mean burst frequency increased in lumbar nerves

• mean burst frequency decreased in hypoglossal nerve

vision/eye

abnormal retina inner plexiform layer morphology ( J:65391 )

• glycine receptors fail to localize at synapses in retinal culture

• clustering of GABA-A receptors at postsynaptic sites is reduced but not completely abolished

cellular

abnormal axon extension ( J:98106 )

• decreased axon branching in the diaphragm

• increased axon branching in limb musculature