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Behavioral characterization of a novel Cisd2 mutant mouse
Christiann H Gaines1, Angela E Snyder2, Robin B Ervin3
1Department of Genetics, University of North Carolina at Chapel Hill, NC, United States; Neuroscience Curriculum, University of North Carolina at Chapel Hill, NC, United States.
Behavioural Brain Research
|February 21, 2021
Summary
A new mouse model with a Cisd2 gene mutation, B6.DDY-Cisd2m1Lmt, exhibits neurological and psychiatric symptoms relevant to Wolfram syndrome (WFS). This model shows hypoactivity, increased stress, and deficits in learning and memory, aiding WFS research.
Area of Science:
- Neuroscience
- Genetics
- Rare Diseases
Background:
- Wolfram syndrome (WFS) is a rare autosomal recessive disorder with subtypes WFS1 (WFS1 gene) and WFS2 (CISD2 gene).
- WFS is characterized by diabetes, optic atrophy, deafness, and often psychiatric disorders.
- While WFS1 mouse models are studied, Cisd2 mutant models for WFS2 are less explored.
Purpose of the Study:
- To characterize the B6.DDY-Cisd2m1Lmt mouse model for potential neurological and psychiatric phenotypes relevant to Wolfram syndrome.
- To assess the behavioral deficits in Cisd2 mutant mice.
Main Methods:
- Identification of B6.DDY-Cisd2m1Lmt mice with spontaneous Cisd2 mutation.
- Behavioral testing battery including assays for anxiety, sensorimotor gating, stress response, social interaction, and learning/memory.
- Comparison of mutant mice to wildtype littermates.
Main Results:
- B6.DDY-Cisd2m1Lmt mice displayed hypoactivity in multiple behavioral tests.
- Mutant mice showed an increased stress response compared to wildtype.
- Deficits in spatial learning, memory, and sensorimotor gating were observed in Cisd2 mutant mice.
Conclusions:
- The B6.DDY-Cisd2m1Lmt mouse strain is a valuable model for studying the neurological and psychiatric aspects of Wolfram syndrome.
- This model can help elucidate the mechanisms underlying WFS symptoms associated with CISD2 gene mutations.
