Analysis Tools
behavior/neurological
|
• show a trend toward reduced response
|
trunk curl
(
J:330596
)
hyperactivity
(
J:99481
)
|
• increase in the number of squares crossed in a modified SHIRPA
• increase in activity in both the periphery and center of an open field
|
|
• 47% increase in response latency
|
hearing/vestibular/ear
| N |
• positive Preyer reflex to clickbox indicates heterozygotes are not profoundly deaf
• malleus and incus appear normal
|
|
• the round window is smaller or entirely absent
|
|
• the shape of the stapes varies greatly and is only occassionally normal
|
|
• additional inner hair cells are found
|
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• patches of an extra row of outer hair cells are frequent
|
|
• incomplete expressivity such that some inner ears lack semicircular canal whereas it is truncated in others
|
|
• majority of heterozygotes have truncated lateral semicircular canal rather than complete absence and ampulla is present
|
|
• thinning of the superior canal is occassionally seen but no truncation
|
growth/size/body
|
• decreased by 30%
|
|
• decreased by 16%
|
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• both male and female adult mice exhibited a significantly lower body weight than wild-type controls
(J:161880)
• decreased weight from early life to adulthood
(J:330596)
|
|
• at 14 weeks of age
|
vision/eye
| N |
• no eye abnormalities are seen
|
homeostasis/metabolism
|
• show a trend toward reduced response
|
|
• increased blood urea levels
|
|
• decreased fasted insulin level
|
|
• decreased HDL and LDL levels
|
|
• increased VCO2
|
|
• increased VO2
|
|
• glucose tolerance on average is similar to controls but has a binomial distribution with two groups (high and low responders) identified
|
immune system
|
• tends to be increased but not statistically significant
|
nervous system
 |
• adult females showed a slightly reduced gonadotropin-releasing hormone (GnRH1) neuron density in the median eminence relative to wild-type controls
|
|
• additional inner hair cells are found
|
|
• patches of an extra row of outer hair cells are frequent
|
|
• severely enlarged third dorsal ventricle
|
|
• absence of midline crossing resulting in dysgenesis of the corpus callosum in one of 3 mice
|
|
• abnormally shaped
|
|
• abnormally shaped
|
|
• 2 of 23 adult mice had abnormal olfactory bulbs; one olfactory bulb consisted of two parts while a second one showed asymmetrical hypoplasia
• however, the layered organization of the adult olfactory bulb was normal and no morphological abnormalities were noted in the olfactory epithelia or olfactory bulbs at E16.5
|
|
• adult mice exhibited a slightly decreased olfactory bulb/brain length ratio relative to wild-type controls
|
|
• 1 of 23 adult mice exhibited mild asymmetrical olfactory bulb hypoplasia
|
|
|
• adult females showed slightly reduced numbers of hypothalamic GnRH1 neurons
• however, no difference in GnRH1 neuron density is noted at E16.5
|
hematopoietic system
|
• tends to be increased but not statistically significant
|
reproductive system
 |
• mean testis weight of adult males was significantly lower than in wild-type controls
• however, most males showed a significantly increased testis weight/body weight ratio (gonadosomatic index, GSI) due to a lower body weight
|
|
|
• 2 of 12 adult males exhibited severely hypoplastic testes with a reduced gonadosomatic index (GSI)
|
|
|
• all (9 of 9) adult females had abnormal uteri
• most uteri were shorter and wider than in wild-type controls
• however, the combined weights of the uteri and ovaries were relatively normal
|
|
|
• a cyst in one uterine horn and one unilateral hypoplastic uterine horn were identified
• wider than normal uterine horns were observed
|
|
• number of days required to produce the first litter was significantly greater in both male and female mice than in wild-type controls
• however, the % of heterozygous x wild-type matings that did not produce a litter after 2 months was not different from that of wild-type x wild-type matings
|
taste/olfaction
|
• although mice showed an increased response to BALB/c urine compared with water, the response was significantly lower than in wild-type controls, as determined by the mean number of sniff bouts and their cumulative duration
• number of mice that did not explore the urine (non-responders) was greater (5 of 21) than in wild-type controls (1 of 19)
• poorer performance in smell test may be secondary to olfactory dysfunction or to balance disturbances
|
adipose tissue
|
• decreased by 30%
|
|
• decreased by 28%
|
endocrine/exocrine glands
|
|
• adult females showed a slightly reduced gonadotropin-releasing hormone (GnRH1) neuron density in the median eminence relative to wild-type controls
|
|
|
• mean testis weight of adult males was significantly lower than in wild-type controls
• however, most males showed a significantly increased testis weight/body weight ratio (gonadosomatic index, GSI) due to a lower body weight
|
|
|
• 2 of 12 adult males exhibited severely hypoplastic testes with a reduced gonadosomatic index (GSI)
|
craniofacial
|
• the round window is smaller or entirely absent
|
|
• the shape of the stapes varies greatly and is only occassionally normal
|
skeleton
|
• the round window is smaller or entirely absent
|
|
• the shape of the stapes varies greatly and is only occassionally normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:330596 | |
