mortality/aging
• homozygotes are obtained at sub-Mendelian ratios, with most deaths occurring perinatally
|
• if unattended, some homozygotes die postnatally, putatively as a result of an impaired ability to feed due to overgrown incisors
|
behavior/neurological
• homozygotes exhibit a <10% decrease in locomotor activity relative to wild-type littermates
|
craniofacial
• homozygotes develop a striking craniofacial abnormality that is evident during the second week of life
|
long incisors
(
J:87198
)
• some homozygotes develop overgrown incisors which may impair their ability to feed
|
short snout
(
J:87198
)
• homozygotes display a shortened eye-to-nose tip length
|
growth/size/body
long incisors
(
J:87198
)
• some homozygotes develop overgrown incisors which may impair their ability to feed
|
short snout
(
J:87198
)
• homozygotes display a shortened eye-to-nose tip length
|
• homozygotes exhibit a reduced body mass throughout postnatal development and in adulthood
|
• homozygotes are 10-15% shorter than wild-type littermates
|
vision/eye
• homozygotes display wide set eyes
|
nervous system
N |
• adult homozygotes appear neuroanatomically normal, with no obvious structural abnormalities in the optic nerve, corpus callosum, or sciatic nerve relative to wild-type littermates
|
• homozygotes exhibit a significant deficit in prepulse inhibition (PPI) relative to wild-type littermates
• male homozygotes display significantly less PPI than wild-type males at 90 dB/4 kHz, 90 dB/12kHz, and 90 dB/20 kHz
• female homozygotes display significantly less PPI than wild-type females at 80 dB/12 kHz, 80 dB/20kHz, 90 dB/12 kHz, and 90 dB/20 kHz
|
homeostasis/metabolism
• homozygotes display a significant reduction of aspartate and serine levels in the frontal cortex relative to wild-type littermates
• in addition, homozygotes show a significant reduction in the levels of a large number of amino acids in the hippocampus
|
• homozygotes display a small but significant increase of dopamine levels in the striatum, but not in any other major brains regions examined
|
• homozygotes show a significant decrease in 5-HT turnover, with a corresponding decrease in 5-HIAA levels, in the frontal cortex, hippocampus, hypothalamus, and nucleus accumbens but not in the striatum or cerebellum
|
skeleton
long incisors
(
J:87198
)
• some homozygotes develop overgrown incisors which may impair their ability to feed
|