Phenotypes Associated with This Genotype

Genotype
MGI:8166398

• Allelic Composition: Del(11Arf2-Kansl1)8Yah/+
• Genetic Background: involves: 129S1/Sv * C57BL/6NTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

adipose tissue

decreased total body fat amount ( J:244312 )

• mice exhibit lower adiposity levels at 20 weeks of age

• however, nice show no difference in feeding behavior

behavior/neurological

behavior/neurological phenotype ( J:244312 )

N • mice show no differences in the elevated plus maze, in motor coordination and learning on the rotarod, in acquisition and retention of spatial learning and memory in the Morris water maze, in working memory in the Y maze test, or in muscular strength on the grip test

impaired cued conditioning behavior ( J:244312 )

• during the presentation of the conditioning cue of the fear conditioning test, mice show lower levels of freezing during the second 2-minute long cue

• however, level of freezing is normal during the context session

impaired long-term object recognition memory ( J:244312 )

• in the novel object recognition test, mice are able to differentiate the novel versus the familiar object but show object discrimination defects

fast extinction of fear memory ( J:244312 )

• mice show lower levels of freezing in a fear conditioning/extinction protocol with reinforced conditioned stimuli indicating that fear memory trace is less stable

abnormal locomotor circadian rhythm ( J:244312 )

• mice show reduced spontaneous locomotor activity and rearing behavior during the light phase indicating a decrease in circadian activity

• however mice exhibit a normal circadian pattern and no differences in exploration, locomotor activity, rearing behavior, or time spent in the center of the area are seen in the open field

increased social investigation ( J:244312 )

• in the first phase of the three-chamber sociability test, the social interest session, mice spend more time exploring the unfamiliar mouse

• in the second phase, the social discrimination session, mice interact with familiar and novel congeners for longer periods but no difference in the percentage of time spent to explore the novel congener versus the familiar congener are seen

craniofacial

short nasal bone ( J:244312 )

broad face ( J:244312 )

• broadening of the face at the level of the zygomatic spine and squamosal junction

growth/size/body

short nasal bone ( J:244312 )

broad face ( J:244312 )

• broadening of the face at the level of the zygomatic spine and squamosal junction

decreased body weight ( J:244312 )

• at 20 weeks of age

decreased body length ( J:244312 )

• at 20 weeks of age

mortality/aging

preweaning lethality, incomplete penetrance ( J:244312 )

• fewer than the expected number of mice are obtained indicating lethality

nervous system

abnormal brain morphology ( J:244312 )

• increase in brain volume, with increases in amygdala, nucleus accumbens, cingulate complex, entorhinal cortex, frontal region volumes

abnormal excitatory postsynaptic potential ( J:244312 )

• mice show decreased filed excitatory postsynaptic potentials (fEPSPs) in hippocampal slices, especially in response to higher stimulus strengths

• mean slopes of fEPSPs invoked by the maximum stimulus strength (4.2 V) are smaller

• however, no changes in LTP elicited by theta-burst stimulation are seen

decreased paired-pulse ratio ( J:244312 )

• the mean paired-pulse ratio of slopes of fEPSPs evoked at a 50 ms interpulse interval is lower

respiratory system

short nasal bone ( J:244312 )

skeleton

short nasal bone ( J:244312 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Koolen de Vries syndrome		DOID:0050880	OMIM:610443	J:244312