Phenotypes associated with this allele

• Allele Symbol: Glra1^tm1Rah
• Allele Name: targeted mutation 1, R Adron Harris
• Allele ID: MGI:2676917
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Glra1^tm1Rah/Glra1^tm1Rah	involves: 129X1/SvJ * C57BL/6J	MGI:2677018
ht2	Glra1^tm1Rah/Glra1^+	involves: 129X1/SvJ * C57BL/6J	MGI:2677020

Genotype
MGI:2677018

hm1

• Allelic Composition: Glra1^tm1Rah/Glra1^tm1Rah
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:85341 )

• homozygous mice died within 3 weeks of birth

• similar to Glra1^spd-ot

behavior/neurological

seizures ( J:85341 )

nervous system

seizures ( J:85341 )

Genotype
MGI:2677020

ht2

• Allelic Composition: Glra1^tm1Rah/Glra1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

behavior/neurological

behavior/neurological phenotype ( J:85341 )

N • no convulsive seizures

N • no problems righting themselves when placed down on their back

N • no impairment of coordination by rotarod test

N • no disruption of pain perception by hot plate test

increased startle reflex ( J:85341 )

• increased acoustic startle response

limb grasping ( J:85341 )

• displayed hind limb clenching when lifted by the tail

nervous system

abnormal channel response ( J:85341 )

• disrupted channel function

• decreased maximal response to glycine

• reduced chloride uptake

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperekplexia 1		DOID:0060696	OMIM:149400	J:85341