Analysis Tools
mortality/aging
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• 8/44 mutants weaned have died within a few weeks of weaning, showing a rapid decline
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• mutants display significantly reduced viability at birth; 60% of the expected numbers of mutants do not survive past birth
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embryo
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• at E15.5 placental weights are significantly lower than wild-type
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growth/size/body
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• homozygotes display a lack of incisor eruption
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• homozygous mice lack teeth
(J:64368)
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short snout
(
J:3233
)
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• homzygotes have a foreshortened snout
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• at 5 weeks of age homozygotes are runted and less than half the size of wild-type or heterozygous littermates
• mutants remain ~1/3 to 1/2 the size of control littermates at 7 months of age
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• by P11 homozygotes begin to lag behind littermates in weight gain; mutants continue to gain weight slowly thereafter
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• at E15.5 fetal weights are significantly lower than wild-type
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endocrine/exocrine glands
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• in adult females, atretic follicles predominate with no follicles more advanced than the antral stages were observed
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• lumen is abnormally large and empty in mutants
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behavior/neurological
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• mutants show impairment in the visible platform portion of a Morris water maze test by not swimming directly to the platform by the end of the first day like wild-type do; mutants have longer escape latencies compared to wild-type
• mutant mice swim more slowly and take longer swim paths than controls in the Morris water maze test
• in a hidden-platform task one week after visible platform training homozygous mutants show impairment in finding the hidden platform
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• mice are less responsive to external stimuli that would induce stress
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• homozygous mutants do not startle in response to higher frequency stimuli but wild-type and heterozygotes do
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hyperactivity
(
J:3233
)
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• mutants display hyperactivity compared to controls
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• homozygotes are awake more than wild-type and slept less during the light-on (day cycle) period
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• homozygotes are awake more than wild-type and slept less during the light-on (day cycle) period
• intervening wake bouts are ~ 2-fold longer than those observed in wild-type
• after sleep deprivation, mice take longer to fall asleep
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• null mice have 1/3 fewer numbers of slightly longer REM sleep bouts than wild-type
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• homozygous males show a longer latency to the first mount and percentage of males mounting is lower than in wild-type
• mounting rates are lower in male mutants
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craniofacial
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• homozygotes display a lack of incisor eruption
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• homozygous mice lack teeth
(J:64368)
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domed cranium
(
J:3233
)
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• homozygotes have a domed skull
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short snout
(
J:3233
)
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• homzygotes have a foreshortened snout
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skeleton
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• homozygotes display a lack of incisor eruption
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• homozygous mice lack teeth
(J:64368)
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domed cranium
(
J:3233
)
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• homozygotes have a domed skull
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• at 3 weeks the ends of the long bones are porous
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• the diaphysus medullary cavity contains thick bone trabeculae with trapped chondrocytes and many associated osteoclasts
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• there is disorganization at the epiphyseal growth plate and a small ossified marrow cavity
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• long bones are shortened and show increased density
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hematopoietic system
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• levels of circulating lymphocytes in 4/5 mutants is reduced by 75%, compared to wild-type; one animal had higher levels
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immune system
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• levels of circulating lymphocytes in 4/5 mutants is reduced by 75%, compared to wild-type; one animal had higher levels
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limbs/digits/tail
kinked tail
(
J:3233
)
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• animals have slightly kinked tail tips
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reproductive system
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• in adult females, atretic follicles predominate with no follicles more advanced than the antral stages were observed
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• lumen is abnormally large and empty in mutants
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• some mutant males have motile sperm in the epididymis but at lower levels than in wild-type
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• in one of two adult males, spermatogenesis was very reduced with some abnormal spermatids but no spermatozoa
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nervous system
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• the number of rods in mutant mice is decreased by 22-24%
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vision/eye
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• the number of rods in mutant mice is decreased by 22-24%
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• thickness is decreased in the superior and the inferior hemisphere and in the central and peripheral retina
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• mice show a large variability in luminance-response functions of the a-, b- and c-waves with lower mean values
• curves of luminance-response functions of the a- and b-waves show a shift to the right indicating reduced retinal sensitivity
• mean values of the latencies of the b-waves are higher compared to control
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hearing/vestibular/ear
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• results from an acoustic startle test indicate that mutants have impaired hearing
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neoplasm
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• skin tumors in mutants do not become malignant as wild-type tumors do
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• TPA induced papillomas in mutants become very dry, elongated and hyperkeratinized whereas in wild-type tumors are vigorous and well vascularized although they eventually develop a similar morphology
• wild-type papillomas evolve into severely keatinized projections
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