Phenotypes associated with this allele

• Allele Symbol: Rims2^tm1.1Schc
• Allele Name: targeted mutation 1.1, Susanne Schoch
• Allele ID: MGI:3706333
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rims2^tm1.1Schc/Rims2^tm1.1Schc	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3707368
cx2	Rims1^tm1Sud/Rims1^tm1Sud Rims2^tm1.1Schc/Rims2^tm1.1Schc	involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3707369

Genotype
MGI:3707368

hm1

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

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

mortality/aging

premature death ( J:119934 )

• at greater than 1 month of age, homozygotes are less frequent (19.1%) than expected (25%)

growth/size/body

decreased body size ( J:119934 )

• homozygous mice are slightly smaller than littermate controls (males)

behavior/neurological

abnormal maternal nurturing ( J:119934 )

♀ • females do not take care of their litters even after multiple pregnancies

nervous system

nervous system phenotype ( J:119934 )

N • mutants do not show differences in synaptic transmission, short-term synaptic plasticity, excitatory synapses in CA3, or inhibitory synaptic transmission at CA1 pyramidal cells compared to wild-type

Genotype
MGI:3707369

cx2

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

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