Phenotypes associated with this allele

• Allele Symbol: Rims1^tm1Sud
• Allele Name: targeted mutation 1, Thomas C Sudhof
• Allele ID: MGI:2178099
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rims1^tm1Sud/Rims1^tm1Sud	involves: 129P2/OlaHsd	MGI:3623028
hm2	Rims1^tm1Sud/Rims1^tm1Sud	involves: 129P2/OlaHsd * C57BL/6	MGI:3039379
cx3	Rims1^tm1Sud/Rims1^tm1Sud Rims2^tm1.1Schc/Rims2^tm1.1Schc	involves: 129P2/OlaHsd * 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3707369

Genotype
MGI:3623028

hm1

• Allelic Composition: Rims1^tm1Sud/Rims1^tm1Sud
• Genetic Background: involves: 129P2/OlaHsd

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

nervous system

disorganized barrel cortex ( J:106269 )

• barrels corresponding to the small tactile hairs on the snout are absent or indistinct in nulls in mice aged 8-21 days; in adult mice, barrel boundaries are indistinct in mutants; a uniform distribution of layer IV neurons is observed in mutants instead of being restricted to barrels, except for a few large barrels

impaired synaptic plasticity ( J:106269 )

• in mutants, paired stimuli produces less paired-pulse depression than in wild-type; paired-pulse ratios are increased in mutants compared to wild-type

abnormal excitatory postsynaptic currents ( J:106269 )

• in hippocampal neurons, attenuation of NMDAR-mediated EPSCs by MK801 in mutants is much slower than in wild-type during repetitive stimulation

abnormal inhibitory postsynaptic currents ( J:143053 )

• miniature inhibitory postsynaptic current (mIPSC) frequency is decreased compared to in wild-type mice

• reduction in mIPSC is less severe than in Rims1^tm3.1Sud homozygotes

• evoked inhibitory postsynaptic current (eIPSC) amplitude is reduced compared to in wild-type mice

• reduction in eIPSC is less severe than in Rims1^tm3.1Sud homozygotes

abnormal paired-pulse inhibition ( J:143053 )

• mice exhibit a modest reduction in paired pulse depression compared to in wild-type mice that is less pronounced than in Rims1^tm3Sud neurons exposed to a cre-expressing lentivirus

Genotype
MGI:3039379

hm2

• Allelic Composition: Rims1^tm1Sud/Rims1^tm1Sud
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

behavior/neurological

abnormal maternal nurturing ( J:73900 )

♀ • mothers failed to care for litters

nervous system

abnormal CNS synaptic transmission ( J:73900 )

abnormal excitatory postsynaptic potential ( J:73900 )

• an overall decreased probability of neurotransmitter release in excitatory synapses

• magnitude of synaptic responses is decreased

• no change in neurotransmitter release in inhibitory synapses

reduced long-term potentiation ( J:73899 )

• long term potentiation is absent in the mossy fibers of the hippocampus and in the cerebellum

abnormal post-tetanic potentiation ( J:73900 )

abnormal long-term depression ( J:73899 )

• long term depression is increased in mossy fibers of the hippocampus

abnormal paired-pulse facilitation ( J:73900 )

decreased paired-pulse facilitation ( J:73900 )

• paired pulse depression seen at inhibitory synapses of CA1 pyramidal neurons

enhanced paired-pulse facilitation ( J:73900 )

• facilitation was greatly increased in excitatory synapses in the hippocampus with short interstimulation intervals but not with longer ones

• repetitive stimulation of excitatory synapses produced extended facilitation

Genotype
MGI:3707369

cx3

• 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