Phenotypes Associated with This Genotype

Genotype
MGI:5638914

• Allelic Composition: Efna2^tm1Jgf/Efna2^tm1Jgf; Efna3^tm1Rax/Efna3^tm1Rax
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * Swiss Webster

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

behavior/neurological

abnormal learning/memory/conditioning ( J:216970 )

• mutants do not exhibit deficits in cue-related or context-related fear conditioning, but time spent freezing remains increased for all testing 24 hours after conditioning

• mutants exhibit a different swim pattern than wild-type mice in the Morris water maze, with a tendency to exhibit small spiral swim patterns along the wall of the pool interrupted by bursts of random swimming that criss-cross the maze compared to wild-type mice that show a combination of large circular swim patterns interspersed with some cross-maze swimming

• in the probe trail, mutants, but not wild-type mice, tend to revert back to their swim patterns during early training

• however, mutants are able to learn the new location of the hidden quadrant during reversal training of the Morris water maze

abnormal response to new environment ( J:216970 )

• although mutants exhibit a normal exploratory response to a novel environment, they engage in exploratory behavior less in the second 10 min of testing than wild-type mice, engaging mostly in grooming behaviors during the non-exploratory time

decreased anxiety-related response ( J:216970 )

• mutants bury fewer marbles than wild-type mice

increased thigmotaxis ( J:216970 )

• mutants exhibit increased thigmotaxis in the open field

• however, mice show similar behavior as wild-type mice in the elevated plus maze

increased grooming behavior ( J:216970 )

• mutants exhibit compulsive facial grooming that becomes apparent around 3 months of age and increases in severity over time, leading to hair loss or skin lesions at site of over-grooming between 4-6 months of age

• mutants engage in exploratory behavior less the second 10 min of testing than wild-type mice, engaging mostly in grooming behaviors during the non-exploratory time

• mutants spend more time grooming during the 5 minutes after receiving a facial spritz of water

decreased startle reflex ( J:216970 )

• mutants exhibit an attenuated auditory startle compared to wild-type mice on the trials without prepulses

decreased vertical activity ( J:216970 )

• mutants rear fewer times than wild-type mice

decreased locomotor activity ( J:216970 )

• in the open field, mutants travel less distance than wild-type mice

• mutants are hypolocomotive and this hypoactivity does not change over time, however, the decline in exploratory activity is similar to wild-type mice

• however, mice exhibit normal gait and ambulatory coordination

• in the three-chamber social behavior assay, mutants show less spontaneous locomotor activity

social withdrawal ( J:216970 )

• in the three-chamber social behavior assay, mutants show a social aversion, with social index values less than in wild-type mice

nervous system

abnormal sensorimotor gating ( J:216970 )

• abrasive lesions around the eyes due to excessive grooming are nearly always more severe on the side where the ear tag is placed, suggesting sensorimotor gating problems

increased prepulse inhibition ( J:216970 )

• mutants have greater prepulse inhibition (PPI) of acoustic startle response than wild-type mice at all prepulse intensities (3 dB, 6 dB, and 12 dB) tested and there is a greater percent increase in PPI with increasing prepulse intensities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:216970