Phenotypes Associated with This Genotype

Genotype
MGI:5484564

• Allelic Composition: Smn1^tm1Hung/Smn1^tm1Hung; Tg(SMN2)2Hung/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N * FVB/N

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

mortality/aging

premature death ( J:193844 )

• Background Sensitivity: mice on a mixed background exhibit increased survival compared with mice on a C57BL/6N or FVB/N background

nervous system

abnormal neuromuscular synapse morphology ( J:193844 )

• Background Sensitivity: mice on a mixed background exhibit increased endplate size compared with mice on an FVB/N background

abnormal synaptic vesicle morphology ( J:193844 )

• at P4 and P14, the area of nerve terminals occupied by synaptic vesicle area is decreased compared to in Smn1^tm1Hung/Smn1⁺ Tg(SMN2)2Hung mice

• at P14, the number of active zones is reduced compared to in Smn1^tm1Hung/Smn1⁺ Tg(SMN2)2Hung mice

abnormal synaptic vesicle clustering ( J:193844 )

• at P14

abnormal endplate potential ( J:193844 )

• mice exhibit an increase rise and decay time compared to in Smn1^tm1Hung/Smn1⁺ Tg(SMN2)2Hung mice

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:193844 )

• small intestine mucosal epithelial cells exhibit intracytoplasmatic vacuoles at the tips of the villi and lacteals are occasionally dilated

abnormal colon morphology ( J:193844 )

• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

• 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 )

• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

abnormal small intestinal villus morphology ( J:193844 )

• 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 )

• 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 )

• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

abnormal pulmonary alveolus morphology ( J:193844 )

• lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

abnormal pulmonary interalveolar septum morphology ( J:193844 )

• lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

emphysema ( J:193844 )

• lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

cardiovascular system

abnormal heart morphology ( J:193844 )

• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

thin interventricular septum ( J:193844 )

small heart ( J:193844 )

muscle

increased skeletal muscle fiber size ( J:193844 )

• Background Sensitivity: mice on a mixed background exhibit larger muscle fiber size than in mice on an FVB/N background