General Information:

Id: 16,503
Diseases: Myopathy
Mus musculus
article
Reference: [PMID: 25774500]

Interaction Information:

Comment By E15.5, robust expression of Lmod3 was observed in both skeletal muscle and heart, and this expression was maintained throughout adulthood.
Formal Description
Interaction-ID: 158340

gene/protein

LMOD3

is_expressed_in

tissue/cell line

skeletal muscle

Comment By E15.5, robust expression of Lmod3 was observed in both skeletal muscle and heart, and this expression was maintained throughout adulthood.
Formal Description
Interaction-ID: 158341

gene/protein

LMOD3

is_expressed_in

tissue/cell line

heart

Comment Lmod3-KO mice were born at Mendelian ratios from heterozygous intercrosses and were indistinguishable from their WT littermates at birth. However, Lmod3-KO mice gradually displayed a failure-to-thrive phenotype, with the size difference between the KO mice and their WT littermates becoming more pronounced with age. In order to ascertain that the failure to thrive was not due to difficulty in suckling or breathing, the authors confirmed that KO mice had milk spots comparable to those of their WT littermates. Furthermore, conventional histologic analysis showed that the diaphragms were unaffected. The KO mice survived to adulthood, had the same lifespan as that of their WT littermates, and could breed successfully. However, they remained runted compared with their WT littermates. The degree of runting varied between mice, likely due to the mixed background, and there were cases of extreme failure to thrive. Both male and female mice displayed the same growth curves.
Formal Description
Interaction-ID: 158342

gene/protein

LMOD3

affects_activity of

phenotype

failure to thrive

Comment Concurrent with the failure to thrive, muscle sizes and growth rates were also stunted, and hypoplastic myofibers were observed in the Lmod3 KO mice.
Formal Description
Interaction-ID: 158343

gene/protein

LMOD3

affects_activity of

Comment The hearts of KO mice were also smaller starting from P7 and throughout adulthood. Despite the smaller-sized hearts, cardiac function was minimally impaired in the KO animals suggesting that loss of LMOD3 in skeletal muscle was primarily responsible for the failure-to-thrive phenotype.
Formal Description
Interaction-ID: 158344

gene/protein

LMOD3

affects_activity of

phenotype

small heart

Comment Deficiency of LMOD3 in skeletal muscle disrupts sarcomeric organization.
Formal Description
Interaction-ID: 158345

gene/protein

LMOD3

affects_activity of

in skeletal muscle
Comment In skeletal muscle, transcription of Lmod3 was controlled by the transcription factors SRF and MEF2.
Formal Description
Interaction-ID: 158346

gene/protein

MEF2

affects_expression of

gene/protein

LMOD3

in skeletal muscle
Comment In skeletal muscle, transcription of Lmod3 was controlled by the transcription factors SRF and MEF2.
Formal Description
Interaction-ID: 158347

gene/protein

SRF

affects_expression of

gene/protein

LMOD3

in skeletal muscle