Mouse Genome Informatics
hm1
    Efna2tm1Jgf/Efna2tm1Jgf
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• 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
• 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
• 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


Mouse Genome Informatics
hm2
    Efna2tm1Jgf/Efna2tm1Jgf
involves: 129S6/SvEvTac
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• although arborization of temporal axons from the retina is normal, 57% of mice show additional posterior arborization


Mouse Genome Informatics
cx3
    Efna2tm1Jgf/Efna2tm1Jgf
Efna5tm1Ddmo/Efna5tm1Ddmo

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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


Mouse Genome Informatics
cx4
    Efna2tm1Jgf/Efna2+
Efna5tm1Ddmo/Efna5+

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• single ectopic arborizations of temporal axons from the retina but normal nasal arborizations


Mouse Genome Informatics
cx5
    Efna2tm1Jgf/Efna2tm1Jgf
Efna3tm1Rax/Efna3tm1Rax
Efna5tm1Ddmo/Efna5tm1Ddmo

involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• localization of innervations from the optic nerve to the dorsal lateral geniculate body are defective


Mouse Genome Informatics
cx6
    Efna2tm1Jgf/Efna2tm1Jgf
Efna3tm1Rax/Efna3tm1Rax

involves: 129S6/SvEvTac * C57BL/6 * Swiss Webster
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mutants bury fewer marbles than wild-type mice
• mutants exhibit increased thigmotaxis in the open field
• however, mice show similar behavior as wild-type mice in the elevated plus maze
• 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
• 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
• 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
• mutants exhibit an attenuated auditory startle compared to wild-type mice on the trials without prepulses
• mutants rear fewer times than wild-type mice
• 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
• in the three-chamber social behavior assay, mutants show a social aversion, with social index values less than in wild-type mice

nervous system
• 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
• 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
OMIM IDRef(s)
Autism 209850 J:216970