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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fkbp1atm1Slh
targeted mutation 1, Susan L Hamilton
MGI:3514012
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Fkbp1atm1Zuk/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
involves: 129S7/SvEvBrd * FVB MGI:3521579
cn2
Fkbp1atm1Slh/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
involves: 129S7/SvEvBrd * FVB MGI:5293356


Genotype
MGI:3521579
cn1
Allelic
Composition
Fkbp1atm1Zuk/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1Slh mutation (0 available); any Fkbp1a mutation (14 available)
Fkbp1atm1Zuk mutation (0 available); any Fkbp1a mutation (14 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• males at 3 months of age started to weigh less (26.3 g) than wild-type (31.9 g), while females had similar weights

muscle
• mRNAs for all three isoforms of calcineurin A are significantly elevated in the diaphragm muscle; a significant increase in calcineurin protein levels is seen in diaphragm muscle homogenates from the mutant mice.
• no difference observed in calcineurin protein level in EDL and soleus muscles between mutant mice and controls
• the diaphragm exhibits an increased percentage of muscle fibers containing internal nuclei
• the diaphragm muscle shows a shift in fast to slow muscle fiber ratio (i.e. of type I to type II fibers)
• mutant myotubes exhibit a reduced maximal voltage-gated Ca2+ release, but decay of the Ca2+transients is not significantly different in the mutant and control
• mutant myotubes were more sensitive to caffeine-induced Ca2+ release than controls
• no significant differences in resting Ca2+ levels
• greater tetanic force in the diaphragm than in controls at frequencies between 15 and 50 Hz; however, isometric tetanic force in the extensor digitorum longus (EDL) muscles was 19-32% less than controls at stimulation frequencies between 60 and 300 Hz
• abnormal calcium homeostasis

homeostasis/metabolism
• mutant myotubes exhibit a reduced maximal voltage-gated Ca2+ release, but decay of the Ca2+transients is not significantly different in the mutant and control
• mutant myotubes were more sensitive to caffeine-induced Ca2+ release than controls
• no significant differences in resting Ca2+ levels




Genotype
MGI:5293356
cn2
Allelic
Composition
Fkbp1atm1Slh/Fkbp1atm1Slh
Tg(Ckmm-cre)5Khn/0
Genetic
Background
involves: 129S7/SvEvBrd * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1Slh mutation (0 available); any Fkbp1a mutation (14 available)
Tg(Ckmm-cre)5Khn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• muscles exhibit increased abnormal mitochondrial compared with wild-type muscles
• extensor digitorum longus muscle-specific force and action potential-triggered calcium transient amplitudes are reduced compared to in wild-type muscles
• muscles exhibit leaky calcium channels indicated by enhanced frequency of calcium sparks compared with wild-type mice
• muscles exhibit S107-resistant oxidative stress unlike wild-type muscles
• S107-treatment does not improve abnormal muscle physiology
• extensor digitorum longus muscle-specific force is reduced compared to in wild-type muscles

homeostasis/metabolism

cellular
• S107-resistant oxidative stress in muscles

behavior/neurological





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory