Phenotypes Associated with This Genotype

Genotype
MGI:5796931

• Allelic Composition: Slc6a5^trsl/Slc6a5^trsl
• Genetic Background: C57BL/6J-Slc6a5^trsl/GrsrJ

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

nervous system

tonic seizures ( J:235637 )

• in response to touch or disruption homozygotes can have seizures of varying intensities, with some severe enough that the mouse is pront on its side with stiffened limbs and a whole body tremor

behavior/neurological

abnormal gait ( J:235637 )

• after a seizure homozygotes walk with a stiffened gait

tonic seizures ( J:235637 )

• in response to touch or disruption homozygotes can have seizures of varying intensities, with some severe enough that the mouse is pront on its side with stiffened limbs and a whole body tremor

growth/size/body

malocclusion ( J:235637 )

• most homozygotes develop malocclusion

decreased body size ( J:235637 )

• discernably smaller than littermate controls by 3 weeks of age

mortality/aging

abnormal survival ( J:235637 )

• some homozygotes survive into adulthood and even breed and the phenotype of surviving adults is less severe than what is found pre-wean, with adults more prone to display a stiffened gait instead of severe seizures that leave them prone on their side

lethality at weaning, incomplete penetrance ( J:235637 )

• most homozygotes die at approximately three to five weeks of age with the largest number dying at three weeks

lethality, incomplete penetrance ( J:235637 )

• the percentage of mutants obtained is slightly less than that predicted by Mendelian inheritance

premature death ( J:235637 )

skeleton

malocclusion ( J:235637 )

• most homozygotes develop malocclusion

craniofacial

malocclusion ( J:235637 )

• most homozygotes develop malocclusion

reproductive system

reduced fertility ( J:235637 )

• although both female and male homozygotes have bred, the majority of homozygous females fail to breed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperekplexia 3		DOID:0060698	OMIM:614618	J:235637