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Phenotypes Associated with This Genotype
Genotype
MGI:3758489
Allelic
Composition
Ophn1tm1Bill/Y
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ophn1tm1Bill mutation (0 available); any Ophn1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 20% of mice die between weaning and 6 months of age of unknown cause

nervous system
• one mouse exhibited hydrocephaly, enlargement of brain size and thin cortex
• in severe cases, lateral ventricle enlargement leads to hydroencephaly
• one mouse exhibited hydrocephaly, enlargement of brain size and thin cortex
• in 70% of mice the lateral and third ventricles are dilated compared to 10% of wild-type mice
• in severe cases, lateral ventricle enlargement leads to hydroencephaly
• 22% of mice aged 3 to 4 weeks exhibit mild dilation compared to 8% of wild-type mice
• in 70% of mice the lateral and third ventricles are dilated compared to 10% of wild-type mice
• one mouse exhibited hydrocephaly, enlargement of brain size and thin cortex
• the density of mushroom-shaped dendritic spines is decreased by 30% along apical dendrites compared to in wild-type mice
• however, the density of filopodia is unaltered and apical and basal dendrite thickness is unchanged
• the length of spines is reduced 13% along basal dendrites compared to in wild-type cells
• dendrites of hippocampal and cortical neurons extracted at E18.5 and allowed to differentiate at division 22 in vitro exhibit a 47% increase in spine protrusions (specifically filopodia and stubby spines) compared to wild-type cells
• the length of filopodia on dendrites from hippocampal and cortical neurons extracted at E18.5 and allowed to differentiate at division 22 in vitro is significantly increased (4.54 um compared to 3.95+/- um in wild-type mice) even before differentiation
• paired-pulse facilitation stimulation of the excitatory postsynaptic potential is significantly decreased compared to in wild-type mice

behavior/neurological
• mice are less lateralized in paw preference (15% compared to greater than 48% of wild-type mice)
• in a Morris water maze mice spend less time than wild-type mice floating
• while mice do not differ from wild-type mice during the training phase in a Morris water maze they fail to improve during the acquisition trail and mice fail to succeed in escaping on fewer trials compared to wild-type mice
• during the probe phase in a Morris maze water test mice show no preference for any quadrant while wild-type mice exhibit strong preference for the target quadrant
• 32% of mice were eliminated from the testing in a Morris water maze for continuous floating or thigmotaxic behavior compared to only 8% of wild-type mice
• mice sniff intruder mice more often and spend more time sniffing than do wild-type mice
• while the number of attacks is the same as for wild-type mice, only 18% of mice attack the intruder compared to 47% of wild-type mice
• mice display reduced anxiety when tested in the elevated O-maze, dark-light box and open field tests
• 32% of mice were eliminated from the testing in a Morris water maze for continuous floating or thigmotaxic behavior compared to only 8% of wild-type mice
• in the actimeter test, mice exhibit increased activity due to novelty that decreases following 20 minutes of habituation
• mice exhibit increased exploration scores in the open field test and are less anxious than wild-type mice
• in the actimeter, open field, dark-light box and O- and Y- maze tests mice exhibit an increased level of activity relative to wild-type mice
• however, hyperactivity decreases in the actimeter test following habituation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
syndromic intellectual disability DOID:0050888 J:124943


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory