Phenotypes Associated with This Genotype

Genotype
MGI:3707369

• Allelic Composition: Rims1^tm1Sud/Rims1^tm1Sud; Rims2^tm1.1Schc/Rims2^tm1.1Schc
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJae * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:119934 )

• mice die immediately after birth because of inability to breath

nervous system

abnormal innervation pattern to muscle ( J:119934 )

• in the diaphragm of mutants, synapses are poorly aligned along the midline of the hemidiaphragm and are more randomly distributed across a broader region of the muscle

• this pattern suggests increased innervation or expansion of innervation compared to wild-type

abnormal motor neuron innervation pattern ( J:119934 )

• in the diaphragm of mutants, phrenic nerve synapses are poorly aligned along the midline of the hemidiaphragm and are more randomly distributed across a broader region of the muscle

increased motor neuron number ( J:119934 )

• at E18., there is increased motoneuron density at cervical levels

abnormal spinal cord ventral horn morphology ( J:119934 )

• there is an increased number of ventral horn motoneurons at cervical levels compared to control littermates

abnormal endplate potential ( J:119934 )

• EPPs elicited by single stimulation or at 10 Hz have 10-fold smaller amplitudes compared to controls, and failure rates are significantly increased

abnormal miniature endplate potential ( J:119934 )

• mEPP frequency is reduced by half at phrenic nerve/diaphragm neuromuscular junctions (NMJs) compared to control littermates

• at 2 and 4 mM Ca²⁺, mEPP frequency increases >3-fold in control NMJs but remains unchanged in mutant preparations

skeleton

enlarged thoracic cage ( J:119934 )

• ribcage appears enlarged compared to wild-type

abnormal vertebrae morphology ( J:119934 )

• at E18.5, vertebrae of mutants seem more compact at cervical level

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:119934 )

N • insulin secretion, glucose tolerance, and body fat measurements are similar in mutants and controls