Coloboma hyperactive mutant exhibits delayed neurobehavioral developmental milestones
CJ Heyser, MC Wilson, LH Gold - Developmental brain research, 1995 - Elsevier
The coloboma mutation (Cm) is a neutron-irradiation induced gene deletion located on the
distal portion of mouse chromosome 2. This deletion region includes a gene encoding the
synaptic vesicle docking fusion protein, synaptosomal-associated protein of 25 kDa (SNAP-
25). The resulting mutation is semi-dominant with heterozygote mice exhibiting a triad of
phenotypic abnormalities that comprise profound spontaneous hyperactivity, head bobbing
and a prominent eye dysmorphology. Because the expression pattern of two SNAP-25 …
distal portion of mouse chromosome 2. This deletion region includes a gene encoding the
synaptic vesicle docking fusion protein, synaptosomal-associated protein of 25 kDa (SNAP-
25). The resulting mutation is semi-dominant with heterozygote mice exhibiting a triad of
phenotypic abnormalities that comprise profound spontaneous hyperactivity, head bobbing
and a prominent eye dysmorphology. Because the expression pattern of two SNAP-25 …