Phenotypes associated with this allele

• Allele Symbol: Zdhhc7^tm1.2Lusc
• Allele Name: targeted mutation 1.2, Bernhard Luscher
• Allele ID: MGI:5818178
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zdhhc7^tm1.2Lusc/Zdhhc7^tm1.2Lusc	involves: 129P2/OlaHsd * C57BL/6	MGI:6790473
cx2	Zdhhc3^tm1.2Lusc/Zdhhc3^tm1.2Lusc Zdhhc7^tm1.2Lusc/Zdhhc7^tm1.2Lusc	involves: 129P2/OlaHsd * C57BL/6	MGI:6790474

Genotype
MGI:6790473

hm1

• Allelic Composition: Zdhhc7^tm1.2Lusc/Zdhhc7^tm1.2Lusc
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

growth/size/body

growth/size/body region phenotype ( J:237763 )

N • both males and females exhibit normal body weight at 1-2 months of age, with no overt physical phenotypes

behavior/neurological

behavior/neurological phenotype ( J:237763 )

N • mice exhibit no overt behavioral phenotypes

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:237763 )

N • palmitoylation of the gamma2 subunit of GABA type A receptors (GABA_ARs), of GAP-43 and of the AMPA receptor (AMPAR) subunits GluA2/3 is normal in whole brain extracts

N • hippocampal brain slices from mutant mice show normal cell surface expression of the gamma2 and GluA2/3 subunits of GABA_ARs and AMPARs, respectively

Genotype
MGI:6790474

cx2

• Allelic Composition: Zdhhc3^tm1.2Lusc/Zdhhc3^tm1.2Lusc; Zdhhc7^tm1.2Lusc/Zdhhc7^tm1.2Lusc
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

decreased survivor rate ( J:237763 )

• a few double knockout (DKO) mice survive to 1 year of age

• however, no viable postnatal DKO mice are recovered past 3 generations of brother-sister matings of double heterozygotes

perinatal lethality, incomplete penetrance ( J:237763 )

• unexpectedly, most DKO mice die perinatally with a few surviving to adulthood

growth/size/body

decreased body size ( J:237763 )

• DKO mice appear severely runted by 1 year of age

decreased body weight ( J:237763 )

• by 1 year of age, surviving DKO mice display a severely reduced body weight relative to controls (~54% of that in double heterozygotes and single Zdhhc7^tm1.2Lusc homozygotes)

nervous system

decreased brain weight ( J:237763 )

• by 1 year of age, surviving DKO mice display a severely reduced brain weight relative to controls (~75% of that in double heterozygotes and single Zdhhc7^tm1.2Lusc homozygotes)

abnormal innervation ( J:237763 )

• under competitive culture conditions, DKO primary cortical neurons co-cultured with wild-type neurons exhibit defects in synaptic localization of GABA_ARs resulting in loss of innervation by wild-type neurons

abnormal inhibitory synapse morphology ( J:237763 )

• under competitive culture conditions, DKO primary cortical neurons co-cultured with wild-type neurons show deficits in GABA_ARs clustering and inhibitory synapse density, with a drastic reduction in the density of both presynaptic GAD puncta and postsynaptic gamma2 puncta, no change in the size of gamma2 puncta, but significantly decreased colocalization of gamma2 and GAD puncta

• under competitive culture conditions, the gamma2 clustering defect in co-cultured DKO neurons is comparable to that in seen in co-cultures of Zdhhc3^tm1.2Lusc neurons with wild-type neurons

• however, in pure cultures, DKO primary cortical neurons show normal density and colocalization of punctate immunoreactivity for the gamma2 subunit and GAD

abnormal GABAergic neuron physiology ( J:237763 )

• under competitive culture conditions, DKO primary cortical neurons co-cultured with an excess of wild-type neurons exhibit decreased accumulation of GABA_ARs at synapses along with reduced GABAergic innervation and synaptic function

abnormal miniature excitatory postsynaptic currents ( J:237763 )

• patch clamp recordings of DKO neurons grown in competition with wild-type neurons show that the frequency, but not the amplitude, of mEPSCs is reduced in DKO versus wild-type neurons

abnormal miniature inhibitory postsynaptic currents ( J:237763 )

• patch clamp recordings of DKO neurons grown in competition with wild-type neurons show that the frequency and amplitude of mIPSCs recorded from DKO neurons are significantly reduced relative to wild-type neurons

• however, GABA- and glutamate-evoked whole-cell currents in DKO neurons are normal

decreased miniature inhibitory postsynaptic current amplitude ( J:237763 )

decreased miniature inhibitory postsynaptic current frequency ( J:237763 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:237763 )

N • primary cultured neurons prepared from DKO embryos show normal cell surface expression of the gamma2 and GluA2/3 subunits of GABA_ARs and AMPARs, respectively