Phenotypes associated with this allele

• Allele Symbol: Slc12a5^tm1Dlp
• Allele Name: targeted mutation 1, Eric Delpire
• Allele ID: MGI:3686895
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a5^tm1Dlp/Slc12a5^tm1Dlp	involves: 129 * C57BL/6J	MGI:3686899
ht2	Slc12a5^tm1Dlp/Slc12a5^+	involves: C57BL/6J	MGI:3686900

Genotype
MGI:3686899

hm1

• Allelic Composition: Slc12a5^tm1Dlp/Slc12a5^tm1Dlp
• Genetic Background: involves: 129 * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:113307 )

• begin to die around P10 with all dead by P17

• treatment with phenytoin to temporarily prevent seizures does not improve survival

behavior/neurological

abnormal posture ( J:113307 )

• stand and walk on stiff limbs

abnormal gait ( J:113307 )

• stand and walk on stiff limbs

tonic-clonic seizures ( J:113307 )

• induced by gentle handling and by disturbance from movement of the dam or littermates

• injection of diazepam relieved the immediate seizure (caused by handling) but did not prevent future seizures

• treatment with phenytoin prevented seizures until P12 - P13 and while effective improved growth of the mice but does not improve survival

nervous system

tonic-clonic seizures ( J:113307 )

• induced by gentle handling and by disturbance from movement of the dam or littermates

• injection of diazepam relieved the immediate seizure (caused by handling) but did not prevent future seizures

• treatment with phenytoin prevented seizures until P12 - P13 and while effective improved growth of the mice but does not improve survival

abnormal brain interneuron morphology ( J:113307 )

• reduced density in the hippocampus and overlying retrosplenial cortex

abnormal summary potential ( J:113307 )

• at 10 to 14 days of age, hippocampal slices stimulated at a 0.1 Hz display multiple population spikes, unlike wild-type mice which display a single population spike, and the amplitude of the shortest latency spike is significantly decreased

growth/size/body

decreased body size ( J:113307 )

postnatal growth retardation ( J:113307 )

• reduced growth rate that can be temporarily improved by treatment with phenytoin to prevent seizures

Genotype
MGI:3686900

ht2

• Allelic Composition: Slc12a5^tm1Dlp/Slc12a5⁺
• Genetic Background: involves: C57BL/6J

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:113307 )

• about 2-fold increase in sensitivity to pentylenetetrazole induced epileptic seizures

nervous system

increased susceptibility to pharmacologically induced seizures ( J:113307 )

• about 2-fold increase in sensitivity to pentylenetetrazole induced epileptic seizures

abnormal summary potential ( J:113307 )

• at 10 to 14 days of age, hippocampal slices stimulated at a 0.1 Hz display multiple population spikes, unlike wild-type mice which display a single population spike

• however, the amplitude of the shortest latency spike is similar to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:113307