Phenotypes associated with this allele

• Allele Symbol: Rapsn^tm1Jrs
• Allele Name: targeted mutation 1, Joshua R Sanes
• Allele ID: MGI:2148091
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rapsn^tm1Jrs/Rapsn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ	MGI:2174714
ht2	Rapsn^em1Gan/Rapsn^tm1Jrs	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:6389106

Genotype
MGI:2174714

hm1

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

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

mortality/aging

perinatal lethality, complete penetrance ( J:28777 )

• animals die within hours of birth

nervous system

abnormal neuromuscular synapse morphology ( J:28777 )

failure of neuromuscular synapse postsynaptic differentiation ( J:28777 )

• absence of acetylcholine receptor clusters at end plate band

• other postsynaptic proteins fail to cluster at synaptic sites

muscle

muscle weakness ( J:28777 )

• animals cannot support themselves on all fours and cannot lift their heads

respiratory system

respiratory distress ( J:28777 )

• animals breathe weakly

Genotype
MGI:6389106

ht2

• Allelic Composition: Rapsn^em1Gan/Rapsn^tm1Jrs
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

nervous system

abnormal synaptic bouton morphology ( J:282816 )

• axon terminals are extensively arborized, with increased numbers of secondary, tertiary, quaternary branches, in the diaphragm

abnormal neuromuscular synapse morphology ( J:282816 )

• diaphragms from P0 mice show dramatically reduced number and size of acetyl choline receptor clusters

abnormal miniature endplate potential ( J:282816 )

• miniature endplate potentials (mEPP) are seen in fewer muscle fibers than in wild-type

• mEPP amplitudes and frequencies are reduced in muscle fibers