Phenotypes associated with this allele

• Allele Symbol: Glra1^spd
• Allele Name: spasmodic
• Allele ID: MGI:1856362
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Glra1^spd/Glra1^spd	B6C3Fe a/a-Glra1^spd/J	MGI:3581145
hm2	Glra1^spd/Glra1^spd	involves: A/HeJ	MGI:3695040
ht3	Glra1^spd/Glra1^+	B6C3Fe a/a-Glra1^spd/J	MGI:3622188
ht4	Glra1^m1Cpai/Glra1^spd	involves: 129 * A/HeJ * C57BL/6	MGI:6471174

Genotype
MGI:3581145

hm1

• Allelic Composition: Glra1^spd/Glra1^spd
• Genetic Background: B6C3Fe a/a-Glra1^spd/J

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

reproductive system

male infertility ( J:9027 )

♂ • males appear unable to breed

impaired fertilization ( J:107699 )

• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type

impaired acrosome reaction ( J:107699 )

♂ • the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type

behavior/neurological

impaired righting response ( J:9027 )

• exhibit difficulty in regaining an upright posture when turned on their sides

• response improved in mice receiving IP injections of aminooxyacetic acid, 15 micrograms/gm body weight

limb grasping ( J:9027 )

• tend to clasp their hind feet when picked up by the tail and spun

tremors ( J:9027 )

• at rest, in a quiet cage, appear normal but are hyperexcitable and shake rapidly when disturbed

• exhibit a rapid tremor when picked up by the tail, however show no differences in the levels of the major CNS and PNS myelin proteins of lipids

abnormal posture ( J:9027 )

• stiff posture

abnormal gait ( J:9027 )

• walk slowly and on their toes

hyperactivity ( J:20373 )

• mimics sublethal strychnine intoxication

muscle

muscle hypertonia ( J:20373 )

• mimics sublethal strychnine intoxication

Genotype
MGI:3695040

hm2

• Allelic Composition: Glra1^spd/Glra1^spd
• Genetic Background: involves: A/HeJ

behavior/neurological

abnormal startle reflex ( J:33924 )

hyperekplexia ( J:33924 )

increased startle reflex ( J:33924 )

• exhibit increased startle responses to acoustic stimuli of different intensities compared to wild-type

• homozygotes are more responsive than Glrb^spa homozygotes at the lowest stimulus intensities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperekplexia 1		DOID:0060696	OMIM:149400	J:33924

Genotype
MGI:3622188

ht3

• Allelic Composition: Glra1^spd/Glra1⁺
• Genetic Background: B6C3Fe a/a-Glra1^spd/J

reproductive system

impaired fertilization ( J:107699 )

• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type

impaired acrosome reaction ( J:107699 )

♂ • the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type

Genotype
MGI:6471174

ht4

• Allelic Composition: Glra1^m1Cpai/Glra1^spd
• Genetic Background: involves: 129 * A/HeJ * C57BL/6

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:248717 )

• similar mild neuromotor deficits upon tactile or acoustic stimuli as homozygous Glra1^m1Cpai mice