In other species: dog , domestic cat , horse , pig , taurine cattle , goat , sheep

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 160800 (trait) , 255700 (trait) , 118425 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: Myotonia congenita

History: This disorder was first recorded in water buffalo by Borges et al. (2013), who reported on "Eleven clinically affected Murrah buffalo of both sexes (7 females and 4 males) ranging in age from 1 day to 8 years obtained from herds in the states of São Paulo and Pará in Brazil".

Molecular basis: By cloning and sequencing the most likely comparative candidate gene (namely CLCN1, based on similarity of clinical signs across species), Borges et al. (2013) showed that this disorder in Murrah buffalo is due to a SNP in exon 3 (c.396C>T) which creates a "splice donor site located at nucleotides 90–91 of exon-3. The predicted impact of this aberrant splicing event is the alteration of the CLCN1 translational reading frame, which results in the incorporation of 24 unrelated amino acids followed by a premature stop codon."

Clinical features: As described by Borges et al. (2013) "The affected animals exhibited muscle hypertrophy and stiffness. Myotonic discharges were observed during EMG, and dystrophic changes were not present in skeletal muscle biopsies".

Breed: Murrah (Buffalo) (VBO_0000076).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: