Analysis Tools
mortality/aging
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• Background Sensitivity: 10.5% die before weaning on a mixed 129S1/Sv and C57BL/6J background, while on a 129S background, only about 20% of the expected number are recovered
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growth/size/body
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• mutants become significantly heavier starting at E12.5 and are about 30% heavier at E18.5
• the cumulative weight is about 120%N at birth, begins to decrease continuously so that between P14 and 19, mutants are no longer larger than controls, followed by growth at an accelerated rate after the interval of growth failure, such that at P170, weight is about 25% higher than in controls
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kidney cyst
(
J:75054
)
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• scattered small tubular cysts, predominantly in the proximal tubules, are found in both the renal cortex and medulla
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• exhibit cystic changes in the renal cortex
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• cysts are most prominent in the proximity of the corticomedullary junction
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• exhibit cystic changes in the renal medulla
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• exhibit transient growth retardation such that there is a greater decline in growth rate at P10-P15 than in wild-type, however this phase is followed by a higher than normal growth rate during the pubertal growth spurt and by P40, the growth rates are indistinguishable
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• neonates exhibit presence of intestinal gas that results in abdominal distension
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embryo
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• expansion of the labyrinth
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• placentas are 22% heavier at E14.5 and 38.6% heavier at E18.5
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digestive/alimentary system
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• neonates exhibit presence of intestinal gas, usually localized in the ileum but is also seen in the entire length of the small and large intestine, however do not observe gas in the stomach and gastrointestinal motility is normal; gas dissipates by P18 in surviving mice
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hematopoietic system
small spleen
(
J:75054
)
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• spleens are smaller
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• the average spleen to body weight ratio does not exceed about 60% of the normal value
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• at 6 months of age, observe an enlargement of the follicles present in a complex anastomosing pattern
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homeostasis/metabolism
hypoglycemia
(
J:75054
)
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• the severely growth retarded mutants are hypoglycemic at P15 but not at P1, when they are still normal sized
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• intestinal lactase activity is about 2-fold lower than in wild-type
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immune system
small spleen
(
J:75054
)
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• spleens are smaller
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• the average spleen to body weight ratio does not exceed about 60% of the normal value
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• at 6 months of age, observe an enlargement of the follicles present in a complex anastomosing pattern
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craniofacial
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• 2.5% (2/79) exhibit agnathia with only a small bud of skin present instead of the lower jaw
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limbs/digits/tail
polydactyly
(
J:75054
)
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• 7.6% (6/79) exhibit polydactyly that is always postaxial; affects mostly the forelimbs but cases with extra digits in both fore- and hindlimbs or only in hindlimbs are also seen
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pigmentation
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• 80% lack pigmentation in the feet and distal third of their tails
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belly spot
(
J:75054
)
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• about 10% exhibit white belly spotting that is confined to the ventral side around the umbilicus and has sharp borders
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renal/urinary system
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• variable degree of severity of dysplasia that correlates with mortality; kidney abnormalities are not very prominent in long-lived survivors
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kidney cyst
(
J:75054
)
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• scattered small tubular cysts, predominantly in the proximal tubules, are found in both the renal cortex and medulla
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• exhibit cystic changes in the renal cortex
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• cysts are most prominent in the proximity of the corticomedullary junction
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• exhibit cystic changes in the renal medulla
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• renal cortex is thinner at P15
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• the thinner renal cortex is accompanied by an expansion of the medulla in the form of irregular clusters of distal tubules protruding unevenly beyond the medulla into the renal cortex
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• seen in several adults
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• stillborns, but not E16.5-E18.5 embryos, exhibit dilatation of renal tubules throughout the kidneys with variable severity
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skeleton
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• 2.5% (2/79) exhibit agnathia with only a small bud of skin present instead of the lower jaw
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• attachment of the ribs to the sternum occurs in a slightly asymmetrical fashion resulting in a variation (not a true abnormality) called crankshaft-sternum
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respiratory system
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N |
• no evidence of abnormal lung development or respiratory infections
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integument
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• 80% lack pigmentation in the feet and distal third of their tails
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belly spot
(
J:75054
)
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• about 10% exhibit white belly spotting that is confined to the ventral side around the umbilicus and has sharp borders
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Simpson-Golabi-Behmel syndrome type 1 | DOID:0060248 |
OMIM:312870 |
J:75054 | |
