Phenotypes Associated with This Genotype

Genotype
MGI:6729288

• Allelic Composition: Del(16Pi4ka-Hira)1Atai/+
• Genetic Background: C57BL/6N-Del(16Pi4ka-Hira)1Atai

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:285407 )

• neonatal mortality rate is increased, with 70.6% dying after birth compared to 29.1% of wild-type siblings

behavior/neurological

impaired cued conditioning behavior ( J:285407 )

• mice exhibit decreased freezing time in cue-dependent fear-conditioning test

• however, freezing time in contextual fear-conditioning tests is not different

enhanced discrimination learning ( J:285407 )

• mutant mice take approximately half of total training trials that wild-type mice require to reach the criterion in the visual discrimination task

• however, no differences are seen in the reversal learning task and basal synaptic transmission is normal in layer 2/3 in the medial prefrontal cortex

increased startle reflex ( J:285407 )

• the amplitude of startle response per se is higher than in wild-type mice

decreased locomotor activity ( J:285407 )

• mice move shorter distance in the entire field and transit between the outer and inner zones less frequently in the open-field

• however, total locomotor activity in a test cage is not different, but activity for the first 5 minutes appears to be less

• however, no differences in rotarod and elevated-plus maze tests are seen, indicating normal anxiety-like behavior, motor coordination and learning, and no differences in exploration time and percentage of preference between familiar and novel objects in the novel object recognition test are seen

abnormal circadian behavior ( J:285407 )

• in the jet lag test, mutant mice adapt to a new light-dark cycle faster than wild-type mice when the phase is advanced, indicating that mice are more sensitive to an environmental light condition or that the robustness of the circadian clockwork is reduced

• however, free-running period is unaltered, vulnerability of sleep-wake cycle to the ambient light condition is unaltered

abnormal locomotor circadian rhythm ( J:285407 )

• activity levels are reduced at around CT16 in constant dark condition, resulting in an emergence of a third peak between the evening and morning peaks, indicating that an intrinsic circadian rhythm is disturbed, but light-induced entrainment can adjust the disturbed behavioral rhythm

abnormal social recognition ( J:285407 )

• while no differences in trial 1-4 of the five-trial direct social interaction test is seen, mutant mice exhibit a reduction of the interaction time in trial 5 indicating a deficit in social recognition of a novel mouse

• however, mice show no differences in sociability and social novelty preference in the three-chamber test

nervous system

reduced sensorimotor gating ( J:285407 )

• mice show a reduction of auditory-dependent sensorimotor gating

decreased prepulse inhibition ( J:285407 )

• auditory prepulse-mediated prepulse inhibition is decreased

• however, PPI test using light stimulation as a prepulse shows no difference from wild-type mice

cardiovascular system

abnormal cardiovascular system morphology ( J:285407 )

• 10% of E18.5 mutants exhibit cardiovascular abnormalities, including interrupted aortic arch and aberrant right subclavian artery

interrupted aortic arch ( J:285407 )

• seen in a small percentage of E18.5 mutants

abnormal right subclavian artery morphology ( J:285407 )

• aberrant right subclavian artery is seen in a small percentage of E18.5 mutants

endocrine/exocrine glands

thymus hypoplasia ( J:285407 )

• 45.7% of E18.5 mutants show hypoplasia of the thymus with an asymmetric appearance

hematopoietic system

thymus hypoplasia ( J:285407 )

• 45.7% of E18.5 mutants show hypoplasia of the thymus with an asymmetric appearance

immune system

thymus hypoplasia ( J:285407 )

• 45.7% of E18.5 mutants show hypoplasia of the thymus with an asymmetric appearance

vision/eye

abnormal visual evoked potential ( J:285407 )

• mice exhibit generally smaller visual-evoked potentials; the amplitudes of P1 and N2 peaks are smaller, however the latency to each peak is not different

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 22q11.2 deletion syndrome, distal		DOID:0060413	OMIM:611867	J:285407