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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Glra1spd
spasmodic
MGI:1856362
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Glra1spd/Glra1spd B6C3Fe a/a-Glra1spd/J MGI:3581145
hm2
Glra1spd/Glra1spd involves: A/HeJ MGI:3695040
ht3
Glra1spd/Glra1+ B6C3Fe a/a-Glra1spd/J MGI:3622188


Genotype
MGI:3581145
hm1
Allelic
Composition
Glra1spd/Glra1spd
Genetic
Background
B6C3Fe a/a-Glra1spd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glra1spd mutation (1 available); any Glra1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• males appear unable to breed (J:9027)
• males appear unable to breed (J:9027)
• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)

behavior/neurological
• exhibit difficulty in regaining an upright posture when turned on their sides (J:9027)
• response improved in mice receiving IP injections of aminooxyacetic acid, 15 micrograms/gm body weight (J:9027)
• exhibit difficulty in regaining an upright posture when turned on their sides (J:9027)
• response improved in mice receiving IP injections of aminooxyacetic acid, 15 micrograms/gm body weight (J:9027)
• tend to clasp their hind feet when picked up by the tail and spun (J:9027)
• tend to clasp their hind feet when picked up by the tail and spun (J:9027)
• at rest, in a quiet cage, appear normal but are hyperexcitable and shake rapidly when disturbed (J:9027)
• 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 (J:9027)
• at rest, in a quiet cage, appear normal but are hyperexcitable and shake rapidly when disturbed (J:9027)
• 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 (J:9027)
• stiff posture (J:9027)
• stiff posture (J:9027)
• mimics sublethal strychnine intoxication (J:20373)
• mimics sublethal strychnine intoxication (J:20373)
• walk slowly and on their toes (J:9027)
• walk slowly and on their toes (J:9027)

muscle
• mimics sublethal strychnine intoxication (J:20373)
• mimics sublethal strychnine intoxication (J:20373)

cellular
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)




Genotype
MGI:3695040
hm2
Allelic
Composition
Glra1spd/Glra1spd
Genetic
Background
involves: A/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glra1spd mutation (1 available); any Glra1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• exhibit increased startle responses to acoustic stimuli of different intensities compared to wild-type (J:33924)
• homozygotes are more responsive than Glrbspa homozygotes at the lowest stimulus intensities (J:33924)
• exhibit increased startle responses to acoustic stimuli of different intensities compared to wild-type (J:33924)
• homozygotes are more responsive than Glrbspa homozygotes at the lowest stimulus intensities (J:33924)

Mouse Models of Human Disease
OMIM ID Ref(s)
Hyperekplexia, Hereditary 1; HKPX1 149400 J:33924




Genotype
MGI:3622188
ht3
Allelic
Composition
Glra1spd/Glra1+
Genetic
Background
B6C3Fe a/a-Glra1spd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glra1spd mutation (1 available); any Glra1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)

cellular
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (J:107699)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory