Analysis Tools
mortality/aging
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• a subset of F2 heterozygous pups die within several days after birth
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growth/size/body
short snout
(
J:53370
)
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• at 2-14 weeks, heterozygotes show a 30% reduction in body weight relative to wild-type mice
• however, heterozygotes gain weight at a rate that is comparable to that observed in wild-type mice
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• in contrast to wild-type mice, heterozygotes fail to show a time-dependent increase in weight on a high-fat (HF) diet
• heterozygotes appear to be protected against HF diet-induced triglyceride accumulation in WAT
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• heterozygotes exhibit significant intrauterine growth retardation in both weight and height relative to wild-type embryos
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craniofacial
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• at 19 dpc, heterozygotes exhibit a large anterior fontanel
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• heterozygotes display widening of the frontal bone
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short maxilla
(
J:53370
)
short snout
(
J:53370
)
skeleton
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• at 19 dpc, heterozygotes exhibit a large anterior fontanel
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• heterozygotes display widening of the frontal bone
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short maxilla
(
J:53370
)
|
• heterozygotes exhibit delayed osseous maturation; notably, neither broad thumbs nor broad halluces are observed
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cardiovascular system
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• at 19.5 dpc, 9 of 54 heterozygous fetuses (16.6%) display non-overlapping cardiac abnormalities
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• at 19.5 dpc, 1 of 54 heterozygous fetuses exhibit an atrial septal defect
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• at 19.5 dpc, 7 of 54 heterozygous fetuses exhibit a ventricular septal defect of the membranous type
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behavior/neurological
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• heterozygotes display impaired long-term memory (LTM) in a step-through-type passive avoidance test and a cued fear-conditioning test
• in contrast, heterozygotes exhibit normal short-term memory in a Y-maze test as well as normal spatial learning in a water maze test
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• hypolocomotion in a dark environment is noted throughout the entire 60 min observation period in the vertical activity, but only in the first 5 min in the horizontal activity
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• heterozygotes display hypolocomotion in a dark environment but not in a light environment
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nervous system
| N |
• heterozygotes exhibit a normal brain morphology: despite the LTM deficit, neither sensorimotor nor gross neuroanatomical anomalies are observed
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limbs/digits/tail
oligodactyly
(
J:53370
)
|
• 1 of 30 heterozygotes exhibit oligodactyly
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adipose tissue
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• at 8 months, heterozygotes show a significant reduction in WAT weight per body weight; the weight of other tissues, including brown adipose tissue, remains unchanged
• reduced WAT mass is attributed to the inhibition of triglyceride accumulation in WAT
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• at 8 months, heterozygotes fed a HC diet show a marked reduction in adipocyte size relative to similarly fed wild-type mice
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• at death, heterozygotes fed a high-carbohydrate (HC) diet display a significantly reduced fat mass relative to similarly fed wild-type mice
• however, at P3, heterozygotes contain the same amount of BAT and WAT as wild-type mice
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cellular
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• in vitro, embryonic fibroblasts from heterozygous mice exhibit a reduced ability to differentiate into adipocytes upon induction with conventional hormonal stimuli
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homeostasis/metabolism
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• in contrast to wild-type mice, heterozygotes fail to show a time-dependent increase in weight on a high-fat (HF) diet
• heterozygotes appear to be protected against HF diet-induced triglyceride accumulation in WAT
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• heterozygotes show higher plasma insulin levels during glucose tolerance tests suggesting increased insulin secretion; however, this rise in insulin levels does not reach statistical significance
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• heterozygotes fed a HF diet display increased serum leptin levels relative to the severely reduced WAT mass
• in addition, heterozygotes fed a HF diet exhibit increased leptin sensitivity in response to exogenous leptin
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• heterozygotes fed a HF diet display reduced serum levels of free fatty acids relative to wild-type mice
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• heterozygotes exhibit a marked increase in resting oxygen consumption relative to wild-type mice
• in contrast, food intake remains relatively unchanged on either the HC or HF diet
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• heterozygotes display increased glucose tolerance relative to wild-type mice on both a HC and a HF diet
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• despite lipodystrophy, heterozygotes exhibit an enhanced glucose-lowering insulin effect relative to wild-type mice
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• heterozygotes fed a HF diet show a significant increase in serum adiponectin levels, despite their markedly reduced WAT mass
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• heterozygotes display changes in gene expression associated with decreased tissue triglyceride content in skeletal muscle and liver
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• heterozygotes fed a HF diet display reduced Tnfa mRNA levels in WAT relative to wild-type mice
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immune system
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• heterozygotes fed a HF diet display reduced Tnfa mRNA levels in WAT relative to wild-type mice
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respiratory system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Rubinstein-Taybi syndrome | DOID:1933 |
OMIM:180849 OMIM:610543 OMIM:613684 |
J:53370 | |
