Analysis Tools
mortality/aging
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• some fetuses die between E14.5 and E18.5
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growth/size/body
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• sloping forehead
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• runting between P0 and P21
• from 3-16 weeks, homozygotes were significantly smaller than controls
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• mutant adult body weight is 64% of average control body weight
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• mutant adult body length is 76% of the average control body length
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• at E18.5, fetuses are shorter and weigh less
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craniofacial
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• incomplete or irregular ossification
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• mild elevation
• incomplete or irregular ossification
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• sloping forehead
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limbs/digits/tail
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• observed in the first digit of the left hind paw in 2 of 9 embryos
• clinodactyly is not observed
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• described as anatomically disproportionate
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• located closer to the greater tubercle than in controls
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• sometimes bowed (6 of 15 mutant mice examined)
• very prominent medial epicondyle
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• caudal vertebrae 2/3 and 7/8 are fused in 13 of 15 mutant mice
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skeleton
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• incomplete or irregular ossification
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• mild elevation
• incomplete or irregular ossification
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• described as anatomically disproportionate
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• located closer to the greater tubercle than in controls
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• sometimes bowed (6 of 15 mutant mice examined)
• very prominent medial epicondyle
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• wider at iliac crests than in controls
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• irregular ribcage, with crowding of some ribs
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• one to two extra sacrocaudal transitional vertebrae are present
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• caudal vertebrae 2/3 and 7/8 are fused in 13 of 15 mutant mice
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• reduced intervertebral joint space in the lumbar and caudal regions
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• attachment of ribs to sternum followed an irregular pattern affected by the location of the ossification centers of the sternum
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• incomplete or irregular ossification of occipital and parietal bones
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vision/eye
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• angle is displaced anteriorly in some cases
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• ciliary body processes are spaced far apart or blunted in mutant animals
• in some cases, the ciliary process morphology is abnormal
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• iris base is shifted anteriorly in relationship to the ciliary body
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• iris-lens adhesions are observed
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• occasionally broken
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• occasionally broken
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• decreased inner canthal distance
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• a high proportion of pups have closed eyes at P14
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• photoreceptor nuclei are variably reduced in number and the columns are loosely packed or disorganized
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anophthalmia
(
J:194085
)
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• secondary anophthalmia observed at E18.5
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behavior/neurological
| N |
• most tests of neurological function were normal, including open field, grip strength, tests in modified SHIRPA, ABR and hot plate assesment
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• in a discrimination-based olfactory memory test, mutant mice are unable to recogize the familiar from unfamiliar animals after habituation 24 hours prior to the test
• no social investigation time differences were noted in the habituation-dishabituation test when mice are separated for only 10 minutes
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nervous system
| N |
• total area of the hippocampus, corpus callosum, and dorsal third ventricle are unchanged
• total internal length of the pyramidal cell layer is similar to controls
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• the length of the dentate gyrus is reduced compared to controls
• cortex, molecular, striatum radium, and striatum oriens layers are not significantly affected
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• number of neurons is decreased in mutant embryos, and is especially significant in the striatum
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taste/olfaction
| N |
• olfaction in mutant mice is not affected
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cellular
| N |
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• increase in the number of cleaved caspase-3 positive cells in mutant embryos
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• pronounced and ongoing adrenal X-zone degeneration at 16 weeks of age, when this process is completed in controls, suggesting puberty delay
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• increase in the number of gamma-H2AX positive cells throughout mutant embryos, most notably in the telencephalon
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homeostasis/metabolism
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• increase in the number of gamma-H2AX positive cells throughout mutant embryos, most notably in the telencephalon
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endocrine/exocrine glands
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• pronounced and ongoing adrenal X-zone degeneration at 16 weeks of age, when this process is completed in controls, suggesting puberty delay
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reproductive system
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• mutant females bear their first litter around four weeks later than controls
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cardiovascular system
hematopoietic system
immune system
muscle
embryo
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• increase in the number of cleaved caspase-3 positive cells in mutant embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Seckel syndrome | DOID:0050569 |
OMIM:PS210600 |
J:194085 | |
