Analysis Tools
mortality/aging
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• Background Sensitivity: on the 129S4 background, no homozygotes are seen at weaning
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• on a mixed 129S4 and C57BL/6 background, 30% survive past weaning and these are viable and fertile
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cardiovascular system
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• Background Sensitivity: all mice on the 129S4 background and 60% on the mixed 129S4 and C57BL/6 background exhibit defects in the patterning of the outflow tract
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• abnormal looping of the descending aorta on a 129S4 background, with 51% showing looping toward the right instead of the left as in wild-type
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• the two great arteries are located in abnormal positions
• the aorta arises from the anterior-most position of the heart and the pulmonary trunk is located posterior to and on either the left or right side of the aorta
• the pulmonary trunk and the aorta are in parallel positions without crossing over each other
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• on the 129S4 background, the apex of the heart points in a random direction instead of to the left
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• some mutants show left superior vena cava connected to the left atrium
• 30% of homozygotes on the 129S4 background show right atrial isomerism
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dextrocardia
(
J:42018
)
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• Background Sensitivity: seen in 30% of mice on a 129S4 background and a lower frequency in mice on the mixed 129S4 and C57BL/6 background
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mesocardia
(
J:42018
)
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• Background Sensitivity: seen in 30% of mice on a 129S4 background
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hematopoietic system
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• abnormally shaped spleen
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small spleen
(
J:42018
)
homeostasis/metabolism
renal/urinary system
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• Background Sensitivity: 80% and 53% of homozygotes on the 129S4 and the mixed 129S4 and C57BL/6 backgrounds, respectively, show renal hypoplasia
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absent kidney
(
J:42018
)
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• exhibit a spectrum of renal abnormalities including uni- or bilateral agenesis
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single kidney
(
J:42018
)
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• exhibit a spectrum of renal abnormalities including uni- or bilateral agenesis
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respiratory system
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• Background Sensitivity: 100% of homozygotes exhibit right pulmonary isomerism (RPI) and cardiac malformations on the 129S4 background, while on the mixed 129S4 and C57BL/6 background, all homozygotes with outflow tract defects show RPI, whereas all viable mice have normal hearts and lungs
• the left lung has four lobes, in mirror image to the right lung
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• morphology and branching patterns of the bronchi appear to be bilaterally symmetric, and in most cases, both bronchi are eparterial
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skeleton
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• have 9 vertebrosternal ribs and 7 free ribs
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rib fusion
(
J:42018
)
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• frequently the first rib (T1) on vertebra 8 (V8) is fused to the second rib (T2) on the ventral side and connected to the sternum at the T2 position
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• have 16, instead of 13, thoracic vertebrae, displaying the C7/T16/L6 vertebral configuration
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• shape of the dorsal side of V9 (T2) vertebra is similar to that of V8 (T1) of wild-type
• the largest spinous process, a characteristic of V9 (T2) vertebra, is present at V10 (T3)
• the transition of the spinous process shape occurs at V18 and V20, instead of at V16 and V17, as in wild-type
• spinous process of V19 pints in the posterior direction although its shape looks similar to V17
• last pair of thoracic ribs are attached to V23 instead of V20
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liver/biliary system
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• although the liver has the same number and patterns of lobes as wild-type, the shape of some lobes is slightly altered
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growth/size/body
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• some mutants show left superior vena cava connected to the left atrium
• 30% of homozygotes on the 129S4 background show right atrial isomerism
|
|
• Background Sensitivity: 100% of homozygotes exhibit right pulmonary isomerism (RPI) and cardiac malformations on the 129S4 background, while on the mixed 129S4 and C57BL/6 background, all homozygotes with outflow tract defects show RPI, whereas all viable mice have normal hearts and lungs
• the left lung has four lobes, in mirror image to the right lung
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immune system
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• abnormally shaped spleen
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small spleen
(
J:42018
)
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| right atrial isomerism | DOID:0060856 |
OMIM:208530 |
J:42018 | |
| visceral heterotaxy | DOID:0050545 |
OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955 |
J:42018 | |
