Phenotypes associated with this allele

• Allele Symbol: Sv2b^tm1Baj
• Allele Name: targeted mutation 1, Sandra M Bajjalieh
• Allele ID: MGI:3511830
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sv2b^tm1Baj/Sv2b^tm1Baj	involves: 129 * C57BL/6	MGI:3718041
cx2	Sv2a^tm1Baj/Sv2a^tm1Baj Sv2b^tm1Baj/Sv2b^tm1Baj	involves: 129 * C57BL/6	MGI:3718042
cx3	Sv2a^tm1Baj/Sv2a^tm1Baj Sv2b^tm1Baj/Sv2b^tm1Baj Svop^tm1.1Baj/Svop^tm1.1Baj	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr	MGI:5544580

Genotype
MGI:3718041

hm1

• Allelic Composition: Sv2b^tm1Baj/Sv2b^tm1Baj
• Genetic Background: involves: 129 * C57BL/6

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

behavior/neurological

seizures ( J:70828 )

growth/size/body

decreased body size ( J:70828 )

nervous system

seizures ( J:70828 )

vision/eye

abnormal retina neuronal layer morphology ( J:148272 )

• expression of several synaptic vesicle proteins (v-glut1, Vamp2, Synaptotagim, Synaptophysin) is decreased in the retina

abnormal rod electrophysiology ( J:148272 )

• b-wave amplitudes, which reflect synaptic transmission between photoreceptors and bipolar neurons, are reduced about 30% at stimulus intensities that only rod photoreceptors are activated

• normalization to a-waves indicates an even greater reduction of 50% at the highest stimulation indices

Genotype
MGI:3718042

cx2

• Allelic Composition: Sv2a^tm1Baj/Sv2a^tm1Baj; Sv2b^tm1Baj/Sv2b^tm1Baj
• Genetic Background: involves: 129 * C57BL/6

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

seizures ( J:70828 )

growth/size/body

decreased body size ( J:70828 )

behavior/neurological

seizures ( J:70828 )

Genotype
MGI:5544580

cx3

• Allelic Composition: Sv2a^tm1Baj/Sv2a^tm1Baj; Sv2b^tm1Baj/Sv2b^tm1Baj; Svop^tm1.1Baj/Svop^tm1.1Baj
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

mortality/aging

postnatal lethality, complete penetrance ( J:204383 )

• mice die within 3 weeks of birth as in Sv2a^tm1Baj Sv2b^tm1Baj double homozygotes

growth/size/body

postnatal growth retardation ( J:204383 )

• mice fail to grow as in Sv2a^tm1Baj Sv2b^tm1Baj double homozygotes