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Phenotypes Associated with This Genotype
Genotype
MGI:3052930
Allelic
Composition
Mbnl1tm1Sws/Mbnl1tm1Sws
Genetic
Background
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbnl1tm1Sws mutation (2 available); any Mbnl1 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• splitting of myofibers
• no major degeneration was detected up to 11 weeks of age
• increased nuclei number and central position within myofiber
• myotonia noted in homozygotes beginning at 6 weeks of age
• delayed muscle relaxation was noticeable after a rest
• electromyographic recordings confirmed myotonic discharges

vision/eye
• mature cataracts seen at 8 months; progressive with age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
myotonic disease DOID:450 J:86903


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory