Phenotypes associated with this allele

• Allele Symbol: Slc7a10^tm1Dgen
• Allele Name: targeted mutation 1, Deltagen
• Allele ID: MGI:3716074
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc7a10^tm1Dgen/Slc7a10^tm1Dgen	involves: 129P2/OlaHsd * C57BL/6	MGI:3716647

Genotype
MGI:3716647

hm1

• Allelic Composition: Slc7a10^tm1Dgen/Slc7a10^tm1Dgen
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:122880 )

• mice have increased mortality between birth and day 30

postnatal lethality, incomplete penetrance ( J:100127 )

• most (20/26) do not survive to weaning age, though some survive to P40

homeostasis/metabolism

abnormal amino acid level ( J:122880 )

• in the forebrain and cerebellum synaptosome, D-alanine uptake is reduced from 29+/-17 to 7+/-2 % of uptake in wild-type mice

• in cerebellum synaptosome, L-serine uptakes is elevated by 45+/-17% compared to in wild-type mice

• in the absence of sodium in the forebrain, uptake of amino acids is decreased when compared to wild-type for L-serine (decreased by 84+/-8%), L-alanine (decreased by 54+/-2%), D-alanine (decreased by 2+/-2%), glycine (decreased by 14+/-8%), and L-threonine (decreased by 88+/-11%)

• in the absence of sodium, the uptake of L-glutamate and L-proline is abolished

• in the forebrain and cerebellum synaptosome, uptake in the presence of ChCl is reduced from 1890+/-150 to 630+/-70 cpm/mg

• in the forebrain and cerebellum synaptosome, sodium-independent D-serine rapid uptake is abolished and instead occurs slowly

• in the absence of sodium in the cerebellum, L-serine (60+/-7% of wild-type) and D-alanine (0.4+/-0.5% of wild-type) uptake is reduced

growth/size/body

decreased body size ( J:100127 , J:122880 )

• all 20-30 day old mice appear runted (J:100127)

decreased body weight ( J:100127 )

• body, brain and other key organs weigh 20-30% less than controls at P14

behavior/neurological

tremors ( J:100127 , J:122880 )

• display periodic spontaneous tremors between the tonic-clonic-like or seizure activities (J:100127)

• tremors are reduced with the NMDA receptor agonist MK-801 (J:100127)

• mice exhibit tremors when handled (J:122880)

ataxia ( J:100127 )

• seen in all 20-30 day old mice

hunched posture ( J:100127 )

• seen in all 20-30 day old mice

decreased locomotor activity ( J:100127 )

• exhibit less locomotor activity manifested by a 58% reduction in traveling distance and decrease in average velocity, and spent 37% more time in peripheral regions

seizures ( J:100127 )

• generalized behavioral seizures

• frequency of generalized seizures is reduced with the NMDA receptor agonist MK-801

myoclonus ( J:100127 )

tonic-clonic seizures ( J:100127 )

• display periodic tonic-clonic activities manifested as sudden, brief activity bursts lasting for about 0.5-1 s and frequently occurring every 2-30 min

• frequency of tonic-clonic-like activity is decreased by 61% with the NMDA receptor agonist MK-801

nervous system

abnormal nervous system physiology ( J:122880 )

• in the absence of sodium in the forebrain, uptake of amino acids is decreased when compared to wild-type for L-serine (decreased by 84+/-8%), L-alanine (decreased by 54+/-2%), D-alanine (decreased by 2+/-2%), glycine (decreased by 14+/-8%), and L-threonine (decreased by 88+/-11%)

• in the absence of sodium the uptake of L-glutamate and L-proline is abolished

• in the absence of sodium in the cerebellum, L-serine (60+/-7% of wild-type) and D-alanine (0.4+/-0.5% of wild-type) uptake is reduced

seizures ( J:100127 )

• generalized behavioral seizures

• frequency of generalized seizures is reduced with the NMDA receptor agonist MK-801

myoclonus ( J:100127 )

tonic-clonic seizures ( J:100127 )

• display periodic tonic-clonic activities manifested as sudden, brief activity bursts lasting for about 0.5-1 s and frequently occurring every 2-30 min

• frequency of tonic-clonic-like activity is decreased by 61% with the NMDA receptor agonist MK-801

abnormal synaptic physiology ( J:122880 )

• in the forebrain and cerebellum synaptosome, sodium-independent D-serine rapid uptake is abolished and instead occurs slowly

• in the forebrain and cerebellum synaptosome, uptake in the presence of ChCl is reduced from 1890+/-150 to 630+/-70 cpm/mg

• in the forebrain and cerebellum synaptosome, D-alanine uptake is reduced from 29+/-17 to 7+/-2 % of uptake in wild-type mice

• in cerebellum synaptosome, L-serine uptakes is elevated by 45+/-17% compared to in wild-type mice

abnormal CNS synaptic transmission ( J:100127 )

• relative increase in evoked synaptic responses is observed under nominal Mg²⁺-free conditions

abnormal excitatory postsynaptic potential ( J:100127 )

• amplitude of evoked EPSPs and population spikes in the CA1 region are smaller

• mean fiber potential (FP) amplitude and EPSP slope values across input/output curves are decreased in stratum radiatum recordings, however no significant differences in EPSP/FP ratios

muscle

myoclonus ( J:100127 )