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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mbnl1tm1Sws
targeted mutation 1, Maurice W Swanson
MGI:3052922
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mbnl1tm1Sws/Mbnl1tm1Sws involves: 129S1/Sv * C57BL/6J MGI:3052930
cn2
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1Sws/Mbnl2tm1Sws
Tg(Myog-cre)1Eno/0
involves: 129S1/Sv * 129S1/SvImJ * C57BL MGI:5616749
cx3
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1.1Sws/Mbnl2tm1.1Sws
involves: 129S1/Sv * 129S1/SvImJ * C57BL MGI:5616746
cx4
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1.1Sws/Mbnl2+
involves: 129S1/Sv * 129S1/SvImJ * C57BL MGI:5616747
cx5
Mbnl1tm1Sws/Mbnl1+
Mbnl2tm1.1Sws/Mbnl2tm1.1Sws
involves: 129S1/Sv * 129S1/SvImJ * C57BL MGI:5616748


Genotype
MGI:3052930
hm1
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 (0 available); any Mbnl1 mutation (21 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




Genotype
MGI:5616749
cn2
Allelic
Composition
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1Sws/Mbnl2tm1Sws
Tg(Myog-cre)1Eno/0
Genetic
Background
involves: 129S1/Sv * 129S1/SvImJ * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbnl1tm1Sws mutation (0 available); any Mbnl1 mutation (21 available)
Mbnl2tm1Sws mutation (0 available); any Mbnl2 mutation (61 available)
Tg(Myog-cre)1Eno mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

behavior/neurological
• develop severe motor deficits beginning at 12 weeks of age

skeleton
• develop kyphosis beginning at 12 weeks of age

muscle
• profound deficiency of adult skeletal muscle, with severe muscle pathology including small myofibers, fiber size heterogeneity, and centralized nuclei in nearly all myofibers




Genotype
MGI:5616746
cx3
Allelic
Composition
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1.1Sws/Mbnl2tm1.1Sws
Genetic
Background
involves: 129S1/Sv * 129S1/SvImJ * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbnl1tm1Sws mutation (0 available); any Mbnl1 mutation (21 available)
Mbnl2tm1.1Sws mutation (0 available); any Mbnl2 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• time of lethality not specified




Genotype
MGI:5616747
cx4
Allelic
Composition
Mbnl1tm1Sws/Mbnl1tm1Sws
Mbnl2tm1.1Sws/Mbnl2+
Genetic
Background
involves: 129S1/Sv * 129S1/SvImJ * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbnl1tm1Sws mutation (0 available); any Mbnl1 mutation (21 available)
Mbnl2tm1.1Sws mutation (0 available); any Mbnl2 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive beyond 23 weeks of age

growth/size/body
• body weight is maintained at about 30% less than single Mbnl1 homozygotes

behavior/neurological
• 8-10 week old mice develop severe mobility problems
• 8-10 week old mice show impaired rotarod performance
• muscle weakness is seen as early as 4 weeks of age in the grip strength test

cardiovascular system
• hearts are enlarged and heart/body weight ratios are increased about 60%
• fibrosis is seen in enlarged right atria
• interstitial myocardial fibrosis
• PR interval is prolonged, indicating a first degree AV block

muscle
• increased muscle fiber size variation, atrophic and splitting fibers, and increased numbers of central nuclei indicative of muscle degeneration/regeneration are seen in muscles at 10-16 weeks of age
• myotonia is increased compared to single Mbnl1 homozygotes, with both the amplitude and duration of discharges increased 2.5 to about 4-fold
• however, the ejection fraction is not different from wild-type mice
• progressive muscle weakness and wasting

nervous system
• loss of mature neuromuscular junctions, and an increase in degenerated (fragmented endplates) and premature neuromuscular junctions in tibialis anterior muscles

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
myotonic disease DOID:450 J:218011




Genotype
MGI:5616748
cx5
Allelic
Composition
Mbnl1tm1Sws/Mbnl1+
Mbnl2tm1.1Sws/Mbnl2tm1.1Sws
Genetic
Background
involves: 129S1/Sv * 129S1/SvImJ * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mbnl1tm1Sws mutation (0 available); any Mbnl1 mutation (21 available)
Mbnl2tm1.1Sws mutation (0 available); any Mbnl2 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• reduction in embryonic viability





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last database update
09/19/2017
MGI 6.10
The Jackson Laboratory