The effects of a skeletal muscle titin mutation on walking in mice

Cinnamon M. Pace, Sarah Mortimer, Jenna A. Monroy, Kiisa C Nishikawa

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Titin contributes to sarcomere assembly, muscle signaling, and mechanical properties of muscle. The mdm mouse exhibits a small deletion in the titin gene resulting in dystrophic mutants and phenotypically normal heterozygotes. We examined the effects of this mutation on locomotion to assess how, and if, changes to muscle phenotype explain observed locomotor differences. Mutant mice are much smaller in size than their siblings and gait abnormalities may be driven by differences in limb proportions and/or by changes to muscle phenotype caused by the titin mutation. We quantified differences in walking gait among mdm genotypes and also determined whether genotypes vary in limb morphometrics. Mice were filmed walking, and kinematic and morphological variables were measured. Mutant mice had a smaller range of motion at the ankle, shorter stride lengths, and shorter stance duration, but walked at the same relative speeds as the other genotypes. Although phenotypically similar to wildtype mice, heterozygous mice frequently exhibited intermediate gait mechanics. Morphological differences among genotypes in hindlimb proportions were small and do not explain the locomotor differences. We suggest that differences in locomotion among mdm genotypes are due to changes in muscle phenotype caused by the titin mutation.

Original languageEnglish (US)
Pages (from-to)67-76
Number of pages10
JournalJournal of Comparative Physiology A: Neuroethology, Sensory, Neural, and Behavioral Physiology
Volume203
Issue number1
DOIs
StatePublished - Jan 1 2017

Fingerprint

Connectin
walking
Walking
skeletal muscle
mutation
Skeletal Muscle
muscle
genotype
Genotype
Mutation
mice
gait
Muscles
phenotype
muscles
Gait
locomotion
Locomotion
limb
limbs (animal)

Keywords

  • Locomotion
  • Mdm mouse
  • Morphometrics
  • Muscle
  • Titin

ASJC Scopus subject areas

  • Physiology
  • Ecology, Evolution, Behavior and Systematics
  • Animal Science and Zoology
  • Behavioral Neuroscience

Cite this

The effects of a skeletal muscle titin mutation on walking in mice. / Pace, Cinnamon M.; Mortimer, Sarah; Monroy, Jenna A.; Nishikawa, Kiisa C.

In: Journal of Comparative Physiology A: Neuroethology, Sensory, Neural, and Behavioral Physiology, Vol. 203, No. 1, 01.01.2017, p. 67-76.

Research output: Contribution to journalArticle

@article{1819c901498c441fadbda98127b5608c,
title = "The effects of a skeletal muscle titin mutation on walking in mice",
abstract = "Titin contributes to sarcomere assembly, muscle signaling, and mechanical properties of muscle. The mdm mouse exhibits a small deletion in the titin gene resulting in dystrophic mutants and phenotypically normal heterozygotes. We examined the effects of this mutation on locomotion to assess how, and if, changes to muscle phenotype explain observed locomotor differences. Mutant mice are much smaller in size than their siblings and gait abnormalities may be driven by differences in limb proportions and/or by changes to muscle phenotype caused by the titin mutation. We quantified differences in walking gait among mdm genotypes and also determined whether genotypes vary in limb morphometrics. Mice were filmed walking, and kinematic and morphological variables were measured. Mutant mice had a smaller range of motion at the ankle, shorter stride lengths, and shorter stance duration, but walked at the same relative speeds as the other genotypes. Although phenotypically similar to wildtype mice, heterozygous mice frequently exhibited intermediate gait mechanics. Morphological differences among genotypes in hindlimb proportions were small and do not explain the locomotor differences. We suggest that differences in locomotion among mdm genotypes are due to changes in muscle phenotype caused by the titin mutation.",
keywords = "Locomotion, Mdm mouse, Morphometrics, Muscle, Titin",
author = "Pace, {Cinnamon M.} and Sarah Mortimer and Monroy, {Jenna A.} and Nishikawa, {Kiisa C}",
year = "2017",
month = "1",
day = "1",
doi = "10.1007/s00359-016-1137-5",
language = "English (US)",
volume = "203",
pages = "67--76",
journal = "Journal of Comparative Physiology A: Neuroethology, Sensory, Neural, and Behavioral Physiology",
issn = "0340-7594",
publisher = "Springer Verlag",
number = "1",

}

TY - JOUR

T1 - The effects of a skeletal muscle titin mutation on walking in mice

AU - Pace, Cinnamon M.

AU - Mortimer, Sarah

AU - Monroy, Jenna A.

AU - Nishikawa, Kiisa C

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Titin contributes to sarcomere assembly, muscle signaling, and mechanical properties of muscle. The mdm mouse exhibits a small deletion in the titin gene resulting in dystrophic mutants and phenotypically normal heterozygotes. We examined the effects of this mutation on locomotion to assess how, and if, changes to muscle phenotype explain observed locomotor differences. Mutant mice are much smaller in size than their siblings and gait abnormalities may be driven by differences in limb proportions and/or by changes to muscle phenotype caused by the titin mutation. We quantified differences in walking gait among mdm genotypes and also determined whether genotypes vary in limb morphometrics. Mice were filmed walking, and kinematic and morphological variables were measured. Mutant mice had a smaller range of motion at the ankle, shorter stride lengths, and shorter stance duration, but walked at the same relative speeds as the other genotypes. Although phenotypically similar to wildtype mice, heterozygous mice frequently exhibited intermediate gait mechanics. Morphological differences among genotypes in hindlimb proportions were small and do not explain the locomotor differences. We suggest that differences in locomotion among mdm genotypes are due to changes in muscle phenotype caused by the titin mutation.

AB - Titin contributes to sarcomere assembly, muscle signaling, and mechanical properties of muscle. The mdm mouse exhibits a small deletion in the titin gene resulting in dystrophic mutants and phenotypically normal heterozygotes. We examined the effects of this mutation on locomotion to assess how, and if, changes to muscle phenotype explain observed locomotor differences. Mutant mice are much smaller in size than their siblings and gait abnormalities may be driven by differences in limb proportions and/or by changes to muscle phenotype caused by the titin mutation. We quantified differences in walking gait among mdm genotypes and also determined whether genotypes vary in limb morphometrics. Mice were filmed walking, and kinematic and morphological variables were measured. Mutant mice had a smaller range of motion at the ankle, shorter stride lengths, and shorter stance duration, but walked at the same relative speeds as the other genotypes. Although phenotypically similar to wildtype mice, heterozygous mice frequently exhibited intermediate gait mechanics. Morphological differences among genotypes in hindlimb proportions were small and do not explain the locomotor differences. We suggest that differences in locomotion among mdm genotypes are due to changes in muscle phenotype caused by the titin mutation.

KW - Locomotion

KW - Mdm mouse

KW - Morphometrics

KW - Muscle

KW - Titin

UR - http://www.scopus.com/inward/record.url?scp=85006506872&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85006506872&partnerID=8YFLogxK

U2 - 10.1007/s00359-016-1137-5

DO - 10.1007/s00359-016-1137-5

M3 - Article

VL - 203

SP - 67

EP - 76

JO - Journal of Comparative Physiology A: Neuroethology, Sensory, Neural, and Behavioral Physiology

JF - Journal of Comparative Physiology A: Neuroethology, Sensory, Neural, and Behavioral Physiology

SN - 0340-7594

IS - 1

ER -