Phenotypes Associated with This Genotype

Genotype
MGI:5787605

• Allelic Composition: Aspa^deaf14/Aspa^deaf14
• Genetic Background: BALB/c-Aspa^deaf14

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

behavior/neurological

behavior/neurological phenotype ( J:211825 )

N • mice exhibit normal Y maze and light-dark test behavior

decreased startle reflex ( J:211825 )

• in response to white-noise pulses up to 115 dB sound pressure level

tremors ( J:211825 )

• Parkinson-like by age 280 days

ataxia ( J:211825 )

• suggested by movement in an open field (more motion covering less distance)

impaired coordination ( J:211825 )

• shorter latency to falling off a rotating rod

hyperactivity ( J:211825 )

• in an open field, mice move more but cover less distance compared with wild-type mice

nervous system

brain vacuoles ( J:211825 )

• in layer V of the frontal and anterior parietal cerebral cortex, the dorsolateral aspects of the caudate-putamen, the lateral septal nuclei, the thalamus, the pyramidal cell layer of CA1, CA2 and CA3 regions of the hippocampus

• the cerebellar Purkinje cell layer is affected in some areas

• however, not the granule cell layer of the dentate gyrus, the mammillary and supramammilary nuclei, anterior pretectal nuclei, suprageniculate thalamic nuclei, medial geniculate nuclei, intermediate layers of the superior colliculi, periaqueductal nuclei, inferior colliculi, ventral cochlear nuclei, vestibular nuclei, parabrachial nuclei, dorsal tegmental nuclei, and cerebellar white matter

spongiform encephalopathy ( J:211825 )

• in layer V of the frontal and anterior parietal cerebral cortex, the dorsolateral aspects of the caudate-putamen, the lateral septal nuclei, the thalamus, the pyramidal cell layer of CA1, CA2 and CA3 regions of the hippocampus

• the cerebellar Purkinje cell layer is affected in some areas

• however, not the granule cell layer of the dentate gyrus, the mammillary and supramammilary nuclei, anterior pretectal nuclei, suprageniculate thalamic nuclei, medial geniculate nuclei, intermediate layers of the superior colliculi, periaqueductal nuclei, inferior colliculi, ventral cochlear nuclei, vestibular nuclei, parabrachial nuclei, dorsal tegmental nuclei, and cerebellar white matter

hearing/vestibular/ear

abnormal auditory brainstem response waveform shape ( J:211825 )

• abnormal shape in response to mixed frequency (click) stimuli

• reduced amplitude of later peaks at 50 dB SPL

increased or absent threshold for auditory brainstem response ( J:211825 )

• in response to mixed frequency (click or pure-tone) stimuli at 16 kHz

• increased latency of peaks II, III, IV and V of first five clicks

• however, mice exhibit normal response to other frequencies (click) and peak I rate of peak amplitude increase with stimulus intensity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Canavan disease		DOID:3613	OMIM:271900	J:211825