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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Sv2atm1Baj
targeted mutation 1, Sandra M Bajjalieh
MGI:2179735
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Sv2atm1Baj/Sv2atm1Baj involves: 129X1/SvJ * C57BL/6 MGI:3718040
hm2
 		Sv2atm1Baj/Sv2atm1Baj Not Specified MGI:2180206
ht3
 		Sv2atm1Baj/Sv2a+ Not Specified MGI:2180210
cx4
 		Sv2atm1Baj/Sv2atm1Baj
Sv2btm1Baj/Sv2btm1Baj 		involves: 129 * C57BL/6 MGI:3718042
cx5
 		Sv2atm1Baj/Sv2atm1Baj
Sv2btm1Baj/Sv2btm1Baj
Svoptm1.1Baj/Svoptm1.1Baj 		involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr MGI:5544580


Genotype
MGI:3718040
hm1
Allelic
Composition		 Sv2atm1Baj/Sv2atm1Baj
Genetic
Background		 involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sv2atm1Baj mutation (2 available); any Sv2a mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal cell physiology ( J:70828 )
• exocytosis burst is reduced to about 52% of wild-type levels and response to a second wave of calcium is even smaller at 35% of wild-type levels
• SNARE (soluble N-ethylmaleimide sensitive fusion attachment receptor) complexes are decreased in the brain
• however, exocytotic vesicle size and number are normal

nervous system

growth/size/body
decreased body size ( J:70828 )

behavior/neurological




Genotype
MGI:2180206
hm2
Allelic
Composition		 Sv2atm1Baj/Sv2atm1Baj
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sv2atm1Baj mutation (2 available); any Sv2a mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:59073 )
• animals die between P12 and P23

behavior/neurological
seizures ( J:59073 )
• age of onset P6-P10

growth/size/body
postnatal growth retardation ( J:59073 )
• at P7, animals stop growing and are approximately half the size of littermates by P9

nervous system
nervous system phenotype ( J:59073 )
N
• normal brain morphology
• normal synaptic density
• normal synaptic morphology
seizures ( J:59073 )
• age of onset P6-P10
abnormal inhibitory postsynaptic currents ( J:59073 )
• IPSCs in pyramidal neurons of the CA3 region of the hippocampus had reduced frequency and amplitude




Genotype
MGI:2180210
ht3
Allelic
Composition		 Sv2atm1Baj/Sv2a+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sv2atm1Baj mutation (2 available); any Sv2a mutation (37 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:59073 )
• incomplete penetrance; some percentage of animals die between the 2nd through 6th month of life

behavior/neurological
seizures ( J:59073 )
• incomplete penetrance; seen in 24% of animals

nervous system
seizures ( J:59073 )
• incomplete penetrance; seen in 24% of animals




Genotype
MGI:3718042
cx4
Allelic
Composition		 Sv2atm1Baj/Sv2atm1Baj
Sv2btm1Baj/Sv2btm1Baj
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sv2atm1Baj mutation (2 available); any Sv2a mutation (37 available)
Sv2btm1Baj mutation (2 available); any Sv2b mutation (58 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal cell physiology ( J:70828 )
• exocytosis burst is reduced to about 52% of wild-type levels and response to a second wave of calcium is even smaller at 35% of wild-type levels

nervous system

growth/size/body
decreased body size ( J:70828 )

behavior/neurological




Genotype
MGI:5544580
cx5
Allelic
Composition		 Sv2atm1Baj/Sv2atm1Baj
Sv2btm1Baj/Sv2btm1Baj
Svoptm1.1Baj/Svoptm1.1Baj
Genetic
Background		 involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sv2atm1Baj mutation (2 available); any Sv2a mutation (37 available)
Sv2btm1Baj mutation (2 available); any Sv2b mutation (58 available)
Svoptm1.1Baj mutation (0 available); any Svop mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:204383 )
• mice die within 3 weeks of birth as in Sv2atm1Baj Sv2btm1Baj double homozygotes

growth/size/body
postnatal growth retardation ( J:204383 )
• mice fail to grow as in Sv2atm1Baj Sv2btm1Baj double homozygotes




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory