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Phenotypes Associated with This Genotype
Genotype
MGI:5796931
Allelic
Composition
Slc6a5trsl/Slc6a5trsl
Genetic
Background
C57BL/6J-Slc6a5trsl/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc6a5trsl mutation (1 available); any Slc6a5 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• after a seizure homozygotes walk with a stiffened gait
• 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
• most homozygotes develop malocclusion
• discernably smaller than littermate controls by 3 weeks of age

mortality/aging
• 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
• most homozygotes die at approximately three to five weeks of age with the largest number dying at three weeks
• the percentage of mutants obtained is slightly less than that predicted by Mendelian inheritance

skeleton
• most homozygotes develop malocclusion

craniofacial
• most homozygotes develop malocclusion

reproductive system
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory