Phenotypes associated with this allele

• Allele Symbol: Tbc1d24^{tm1b(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1b, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:5692831
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tbc1d24^tm1b(EUCOMM)Hmgu/Tbc1d24^+	B6J.B6N-Tbc1d24^tm1b(EUCOMM)Hmgu	MGI:6358150

Genotype
MGI:6358150

ht1

• Allelic Composition: Tbc1d24^{tm1b(EUCOMM)Hmgu}/Tbc1d24⁺
• Genetic Background: B6J.B6N-Tbc1d24^{tm1b(EUCOMM)Hmgu}
• Cell Lines: HEPD0549_1_A08

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

nervous system

nervous system phenotype ( J:271632 )

N • mice show no defects in early postnatal cortical or hippocampal development

abnormal axon extension ( J:271632 )

• at 5 days in vitro (DIV), primary hippocampal and cortical neurons show significantly reduced axonal growth relative to wild-type controls

abnormal dendrite morphology ( J:271632 )

• at 5 days in vitro (DIV), primary hippocampal and cortical neurons show significantly reduced dendritic growth relative to wild-type controls

abnormal synaptic vesicle recycling ( J:271632 )

• primary hippocampal neurons exhibit a significant recycling deficit during stimulation

abnormal synaptic transmission ( J:271632 )

• mice show impaired endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission

abnormal miniature excitatory postsynaptic currents ( J:271632 )

• in the presence of tetrodotoxin (to block spontaneous action potentials), primary hippocampal neurons show a ~3-fold reduction in mEPSC frequency relative to wild-type neurons, with no marked effects on the distribution of the current amplitude

• excitatory synaptic density is normal in primary hippocampal neurons

cellular

increased cellular sensitivity to oxidative stress ( J:271632 )

• after arsenite treatment, primary hippocampal and cortical neurons show an increased sensitivity to oxidative stress-induced cell death relative to wild-type controls, as quantified by cleaved caspase-3 immunostaining

abnormal axon extension ( J:271632 )

• at 5 days in vitro (DIV), primary hippocampal and cortical neurons show significantly reduced axonal growth relative to wild-type controls

abnormal endocytosis ( J:271632 )

• following a long stimulation (300 APs at 10 Hz), post-stimulus decay traces show a significantly slower time course of endocytosis in primary hippocampal neurons relative to wild-type controls

• data acquired in the absence or presence of folimycin show a >3-fold reduction in endocytic rate and a 4- to 5-fold reduction in magnitude of endocytosis during delivery of 300 pulses

• TEM analysis of nerve terminals revealed a normal density of both total and docked synaptic vesicle (SVs) with a significant increase in the density of endosomal-like structures in primary cortical neurons

• 3D reconstructions of nerve terminals show that while the number of total SVs, docked SVs and endosome-like structures are normal, a 3-fold increase in the endosomal volume is observed

growth/size/body

growth/size/body region phenotype ( J:271632 )

N • mice show normal growth patterns (weight gain) during early postnatal development

behavior/neurological

behavior/neurological phenotype ( J:271632 )

N • mice show normal early postnatal activity, with no significant alterations in the righting-reflex response, negative geotaxis reflex, locomotor posture or locomotor activity relative to wild-type controls

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:271632 )

N • mice show normal ABR thresholds with no detectable disorganization or loss of the cochlea hair cell bundles, indicating normal auditory function