Phenotypes associated with this allele

• Allele Symbol: Efna2^tm1Jgf
• Allele Name: targeted mutation 1, John G Flanagan
• Allele ID: MGI:2182943
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efna2^tm1Jgf/Efna2^tm1Jgf	involves: 129S6/SvEvTac	MGI:3689582
hm2	Efna2^tm1Jgf/Efna2^tm1Jgf	involves: 129/Sv * C57BL/6	MGI:3575395
cx3	Efna2^tm1Jgf/Efna2^tm1Jgf Efna5^tm1Ddmo/Efna5^tm1Ddmo	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:3689619
cx4	Efna2^tm1Jgf/Efna2^+ Efna5^tm1Ddmo/Efna5^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:3689620
cx5	Efna2^tm1Jgf/Efna2^tm1Jgf Efna3^tm1Rax/Efna3^tm1Rax Efna5^tm1Ddmo/Efna5^tm1Ddmo	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:3605233
cx6	Efna2^tm1Jgf/Efna2^tm1Jgf Efna3^tm1Rax/Efna3^tm1Rax	involves: 129S6/SvEvTac * C57BL/6 * Swiss Webster	MGI:5638914

Genotype
MGI:3689582

hm1

• Allelic Composition: Efna2^tm1Jgf/Efna2^tm1Jgf
• Genetic Background: involves: 129S6/SvEvTac

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

nervous system

abnormal sensory neuron innervation pattern ( J:61499 )

• although arborization of temporal axons from the retina is normal, 57% of mice show additional posterior arborization

Genotype
MGI:3575395

hm2

• Allelic Composition: Efna2^tm1Jgf/Efna2^tm1Jgf
• Genetic Background: involves: 129/Sv * C57BL/6

nervous system

abnormal neuron differentiation ( J:96025 )

• increased neurogenesis with increased progenitor cell proliferation in the lateral ventricle wall that is paralleled by a similar increase in the integration of neurons in the olfactory bulb

abnormal brain morphology ( J:96025 )

• increased BrdU incorporation and shortened cell cycle in progenitor cells in the lateral ventricle wall of adult brain and increased proliferation of neural progenitor cells in vitro

abnormal olfactory bulb morphology ( J:96025 )

• increased number of newborn neurons in the olfactory bulb, indicating that migration of neurons from the lateral ventricle wall to the olfactory bulb is not impeded

• 44% increase in the number of BrdU-labeled cells that integrate in the adult olfactory bulb, a 15% increase in cell density and 7% increase in cell number in the adult olfactory bulb

cellular

abnormal neuron differentiation ( J:96025 )

• increased neurogenesis with increased progenitor cell proliferation in the lateral ventricle wall that is paralleled by a similar increase in the integration of neurons in the olfactory bulb

Genotype
MGI:3689619

cx3

• Allelic Composition: Efna2^tm1Jgf/Efna2^tm1Jgf; Efna5^tm1Ddmo/Efna5^tm1Ddmo
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

nervous system

abnormal sensory neuron innervation pattern ( J:61499 )

• ectopic arborization of both retinal temporal axons and nasal axons are more sever than in singly homozygous mice

• usually multiple ectopic arborizations are seen

• normal arborization sometimes lost

Genotype
MGI:3689620

cx4

• Allelic Composition: Efna2^tm1Jgf/Efna2⁺; Efna5^tm1Ddmo/Efna5⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

nervous system

abnormal sensory neuron innervation pattern ( J:61499 )

• single ectopic arborizations of temporal axons from the retina but normal nasal arborizations

Genotype
MGI:3605233

cx5

• Allelic Composition: Efna2^tm1Jgf/Efna2^tm1Jgf; Efna3^tm1Rax/Efna3^tm1Rax; Efna5^tm1Ddmo/Efna5^tm1Ddmo
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

nervous system

abnormal thalamus morphology ( J:101436 )

• localization of innervations from the optic nerve to the dorsal lateral geniculate body are defective

Genotype
MGI:5638914

cx6

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

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