Phenotypes Associated with This Genotype

Genotype
MGI:5484561

• Allelic Composition: Gt(ROSA)26Sor^{tm1.1(CAG-PLS3,-GFP)Bwir}/Gt(ROSA)26Sor⁺; Smn1^tm1Hung/Smn1^tm1Hung; Tg(SMN2)2Hung/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * BALB/cJ * C57BL/6 * FVB/N

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

mortality/aging

premature death ( J:193844 )

• Background Sensitivity: unlike mice on a C57BL/6N background, mice on a mixed background exhibit premature death with a modest increased in mean survival compared with Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung mice

nervous system

nervous system phenotype ( J:193844 )

N • unlike in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, mice exhibit restored synaptic vesicle area with an increase in the synaptic vesicle to endplate area ratio at P14, active zones and endplate potential electrophysiology

abnormal synaptic vesicle number ( J:193844 )

• mice exhibit an partial restoration of readily releasable pool and quantal content compared with Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, small intestine mucosal epithelial cells exhibit intracytoplasmatic vacuoles at the tips of the villi and lacteals are occasionally dilated

abnormal colon morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria

abnormal small intestine morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

abnormal small intestinal villus morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria

decreased small intestinal villus size ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria

respiratory system

abnormal lung morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

abnormal pulmonary alveolus morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

abnormal pulmonary interalveolar septum morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

emphysema ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:193844 )

• Background Sensitivity: mice unlike mice on a C57BL/6N background, mice exhibit impaired motor abilities in tube and righting tests that is not as severe as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung mice

impaired righting response ( J:193844 )

• Background Sensitivity: mice unlike mice on a C57BL/6N background, mice on a mixed background exhibit impaired righting that is not as severe as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung

cardiovascular system

abnormal heart morphology ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

thin interventricular septum ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung

small heart ( J:193844 )

• as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung

growth/size/body

decreased body weight ( J:193844 )

• Background Sensitivity: mice unlike mice on a C57BL/6N background, mice on a mixed background exhibit decreased body weight that is not as severe as in Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung