From mice to men: lessons from mutant ataxic mice

Jan Cendelin

PMC · DOI:10.1186/2053-8871-1-4·June 16, 2014

From mice to men: lessons from mutant ataxic mice

Jan Cendelin

TL;DR

This paper reviews various ataxic mouse models to understand cerebellar degenerative disorders and their potential for studying treatment approaches.

Contribution

The paper provides a comprehensive review of multiple mouse models and their relevance to human cerebellar diseases.

Findings

01

Mouse models like Lurcher and Staggerer show distinct cerebellar pathologies and functional changes.

02

Several models, including SCA1 and Friedreich ataxia, help study the pathogenesis of human ataxic disorders.

03

The paper highlights both the benefits and limitations of using mouse models for therapeutic research.

Abstract

Ataxic mutant mice can be used to represent models of cerebellar degenerative disorders. They serve for investigation of cerebellar function, pathogenesis of degenerative processes as well as of therapeutic approaches. Lurcher, Hot-foot, Purkinje cell degeneration, Nervous, Staggerer, Weaver, Reeler, and Scrambler mouse models and mouse models of SCA1, SCA2, SCA3, SCA6, SCA7, SCA23, DRPLA, Niemann-Pick disease and Friedreich ataxia are reviewed with special regard to cerebellar pathology, pathogenesis, functional changes and possible therapeutic influences, if any. Finally, benefits and limitations of mouse models are discussed.

Linked entities

Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.

Genes38

C1s1 Mapk14 Kcnj6 Ly6a Rora Fmr1 Atxn1 Calb1 Pcp2 Agtpbp1 Ifnb1 Ep300 ATXN1 nr Calb2 Nlgn3 ATXN3 Igf1 ROBO3 Cacna1a Bdnf Atxn7 Rock2 PDYN Dab1 Pdyn Reln Atn1 Rig1 Gdnf FXN Atxn3 Fxn Atxn2 Robo3 Grid2 Casp3 ATN1

Proteins24

Species2

Mus musculus Homo sapiens(human · species)

Cell lines2

Q266— Canis lupus familiaris (Dog) · Canine mammary carcinoma · Cancer cell line Q58-5B— Coturnix japonica (Japanese quail) · Transformed cell line

Chemicals16

amino acids corticosterone calcium MK-801 Na+verapamil Cysteamine dopamine polyQ iron Nicotine glutamate ATP dantrolene acetylcholine anxiogenic

Diseases68

SCA1 SCA2 SCA3 SCA6 SCA7 SCA23 DRPLA Niemann-Pick disease Friedreich ataxia developmental disorder pain autistic Reeler inferior olivary mental and behavioral abnormalities hemorrhage root ganglia ataxic symptom epilepsy peripheral neuropathy cerebellar degenerative disorders motor and oculomotor deficits retina coordination deficits dementia Reeler brain cortex Hot-foot brain atrophy motor impairment weight gain Lurcher Purkinje cell reduction HGPPS vision impairment deterioration of goal-directed movements affective function abnormalities maternal infanticide male sterility schizophrenia choreoathetosis fragile X syndrome speech disorders autosomal dominant neurologic disorder inflammation FRDA autosomal dominant hereditary ataxias premature death cerebellar granule Autosomal dominant ataxias pigmentary macular degeneration Autism spectrum disorders Retinal degeneration abnormalities autosomal recessive lissencephaly SCAs bodyweight impulsivity iron metabolism anomalies phenotype Degeneration of the thalamus learning deficits eyeball movement abnormalities gait pattern abnormalities demyelination -blink tremor Niemann-Pick C disease behavioral abnormalities structural abnormalities Weavers

Mutations1

D1005G

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Taxonomy

TopicsGenetic Neurodegenerative Diseases · Neurological diseases and metabolism · Fetal and Pediatric Neurological Disorders