Phenotypes associated with this allele

• Allele Symbol: Nbea^{Gt(RRK418)Byg}
• Allele Name: gene trap RRK418, BayGenomics
• Allele ID: MGI:4130191
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nbea^Gt(RRK418)Byg/Nbea^Gt(RRK418)Byg	involves: 129P2/OlaHsd * C57BL/6N	MGI:4450988

Genotype
MGI:4450988

hm1

• Allelic Composition: Nbea^{Gt(RRK418)Byg}/Nbea^{Gt(RRK418)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

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

mortality/aging

neonatal lethality, complete penetrance ( J:159572 )

• mice die within minutes of birth

nervous system

nervous system phenotype ( J:159572 )

N • at E18, the respiratory network in the brain stem, including the rostral ventrolateral medulla and hypoglossal nucleus, and general neuron excitability are normal

abnormal synapse morphology ( J:159572 )

• expression of synaptic proteins, especially presynaptic, is reduced compared to in wild-type mice

• density of asymmetric or type 1 synapses is reduced compared to in wild-type mice

• however, the density of symmetric or type 2 synapses is normal

abnormal synaptic vesicle number ( J:159572 )

• presynaptic terminals appear to have fewer vesicles than in wild-type mice but variability in vesicle numbers prevented statistically meaningful quantification

abnormal CNS synaptic transmission ( J:159572 )

decreased excitatory postsynaptic current frequency ( J:159572 )

• in the presence of buculline and strychnine, spontaneous excitatory postsynaptic current (sEPSC) frequency is reduced compared to in similarly treated wild-type neurons

• however, sEPSC amplitude is normal

abnormal inhibitory postsynaptic currents ( J:159572 )

• in the presence of 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX) and 2-amino-5-phosphonovaleric acid (APV), spontaneous inhibitory postsynaptic current (sIPSC) frequency and amplitude are reduced compared to in similarly treated wild-type neurons

• failure rate of evoked IPSC is increased 22-fold compared to in wild-type neurons

• however, evoked IPSC amplitudes in the presence of in the presence of CNQX and APV are normal

abnormal miniature excitatory postsynaptic currents ( J:159572 )

• in the presence of tetrodotoxin (TTX), the frequency of miniature excitatory postsynaptic currents (mEPSC) is reduced compared to in similarly treated wild-type neurons

• however, mEPSC amplitude and rise- and decay-times are normal

abnormal miniature inhibitory postsynaptic currents ( J:159572 )

• miniature inhibitory postsynaptic current (mIPSC) frequency and amplitude are reduced compared to in similarly treated wild-type neurons

• however, mIPSC rise- and decay-times are normal

decreased miniature inhibitory postsynaptic current amplitude ( J:159572 )

decreased miniature inhibitory postsynaptic current frequency ( J:159572 )

behavior/neurological

unresponsive to tactile stimuli ( J:159572 )

• at birth

no spontaneous movement ( J:159572 )

• at birth

homeostasis/metabolism

cyanosis ( J:159572 )

• at birth

adipose tissue

abnormal interscapular fat pad morphology ( J:159572 )

• mice exhibit a hump characterized as an enlarged interscapular fat pad not found in wild-type mice

embryo

umbilical hernia ( J:159572 )

cardiovascular system

cardiovascular system phenotype ( J:159572 )

N • heart morphology is normal at birth

respiratory system

respiratory system phenotype ( J:159572 )

N • lung morphology is normal at birth