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Phenotypes Associated with This Genotype
Genotype
MGI:3622103
Allelic
Composition
Fkbp1atm1Zuk/Fkbp1atm1Zuk
Genetic
Background
either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fkbp1atm1Zuk mutation (0 available); any Fkbp1a mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at E18.5, most homozygotes exhibit rapid demise suggesting perfusion failure (J:45536)
• at E18.5, most homozygotes exhibit rapid demise suggesting perfusion failure (J:45536)
• only a few (8) homozygotes survive to weaning; however, 7 of 8 die within a few weeks because of a cardiac-related wasting syndrome while the eighth one survived to 14 months (J:45536)
• only a few (8) homozygotes survive to weaning; however, 7 of 8 die within a few weeks because of a cardiac-related wasting syndrome while the eighth one survived to 14 months (J:45536)
• most homozygotes die between E14.5 and birth (J:45536)
• most homozygotes die between E14.5 and birth (J:45536)

cardiovascular system
• at E14.5 and E18.5, most homozygotes exhibit noncompaction of left ventricular myocardium (J:45536)
• at E14.5 and E18.5, most homozygotes exhibit noncompaction of left ventricular myocardium (J:45536)
• at E14.5 and E18.5, homozygotes display hypertrophic trabeculae with deep intertrabecular recesses (J:45536)
• at E14.5 and E18.5, homozygotes display hypertrophic trabeculae with deep intertrabecular recesses (J:45536)
• at E14.5 and E18.5, homozygotes exhibit prominent ventral septal defects (J:45536)
• at E14.5 and E18.5, homozygotes exhibit prominent ventral septal defects (J:45536)
• at E18.5, most homozygotes display a significantly increased heart weight relative to wild-type mice (13.4 0.44 mg vs 8.14 0.38 mg) (J:45536)
• at E18.5, most homozygotes display a significantly increased heart weight relative to wild-type mice (13.4 0.44 mg vs 8.14 0.38 mg) (J:45536)
• at E14.5 and E18.5, homozygotes display a thinner left ventricular wall (J:45536)
• at E14.5 and E18.5, homozygotes display a thinner left ventricular wall (J:45536)
• at E18.5, most homozygotes display an enlarged heart due to four-chamber dilation (J:45536)
• at E18.5, most homozygotes display an enlarged heart due to four-chamber dilation (J:45536)
• homozygotes exhibit severe dilated cardiomyopathy associated with aberrant single-channel gating properties of both skeletal and cardiac ryanodinereceptors (J:45536)
• homozygotes exhibit severe dilated cardiomyopathy associated with aberrant single-channel gating properties of both skeletal and cardiac ryanodinereceptors (J:45536)
• at E14.5, many homozygotes exhibit severe liver hemorrhage (J:45536)
• at E14.5, many homozygotes exhibit severe liver hemorrhage (J:45536)
• a single 14-mo-old homozygote displayed reduced contractile activity in the ventricular wall, as shown by reduced fractional shortening (%FS = 19.9%) and ejection fraction (%EF = 35.8%) relative to wild-type (%FS = 41.6%; %EF = 65.1%) (J:45536)
• a single 14-mo-old homozygote displayed reduced contractile activity in the ventricular wall, as shown by reduced fractional shortening (%FS = 19.9%) and ejection fraction (%EF = 35.8%) relative to wild-type (%FS = 41.6%; %EF = 65.1%) (J:45536)

homeostasis/metabolism
• at E14.5, about 50% of homozygotes are edematous consistent with an early heart defect (J:45536)
• at E14.5, about 50% of homozygotes are edematous consistent with an early heart defect (J:45536)

respiratory system
• at E18.5, most homozygotes gasp for breath (J:45536)
• at E18.5, most homozygotes gasp for breath (J:45536)

nervous system
• at E9.5, homozygous mutant embryos exhibit an open cranial neural tube (J:45536)
• at E9.5, homozygous mutant embryos exhibit an open cranial neural tube (J:45536)
• 9% of E14.5 and 4% of E18.5 homozygotes display exencephaly with a 'cauliflower-like' protrusion of the mutant brain (J:45536)
• 9% of E14.5 and 4% of E18.5 homozygotes display exencephaly with a 'cauliflower-like' protrusion of the mutant brain (J:45536)

muscle
• at E14.5 and E18.5, homozygotes display hypertrophic trabeculae with deep intertrabecular recesses (J:45536)
• at E14.5 and E18.5, homozygotes display hypertrophic trabeculae with deep intertrabecular recesses (J:45536)
• homozygotes display an apparently normal skeletal muscle development through embryogenesis; however, lipid bilayer experiments indicate that both skeletal (RyR1) and cardiac (RyR2) ryanodinereceptors show altered single-channel properties (J:45536)
• homozygotes display an apparently normal skeletal muscle development through embryogenesis; however, lipid bilayer experiments indicate that both skeletal (RyR1) and cardiac (RyR2) ryanodinereceptors show altered single-channel properties (J:45536)
• homozygotes exhibit severe dilated cardiomyopathy associated with aberrant single-channel gating properties of both skeletal and cardiac ryanodinereceptors (J:45536)
• homozygotes exhibit severe dilated cardiomyopathy associated with aberrant single-channel gating properties of both skeletal and cardiac ryanodinereceptors (J:45536)
• a single 14-mo-old homozygote displayed reduced contractile activity in the ventricular wall, as shown by reduced fractional shortening (%FS = 19.9%) and ejection fraction (%EF = 35.8%) relative to wild-type (%FS = 41.6%; %EF = 65.1%) (J:45536)
• a single 14-mo-old homozygote displayed reduced contractile activity in the ventricular wall, as shown by reduced fractional shortening (%FS = 19.9%) and ejection fraction (%EF = 35.8%) relative to wild-type (%FS = 41.6%; %EF = 65.1%) (J:45536)

liver/biliary system
• at E14.5, many homozygotes exhibit severe liver hemorrhage (J:45536)
• at E14.5, many homozygotes exhibit severe liver hemorrhage (J:45536)
• at E14.5, many homozygotes exhibit prominent liver necrosis (J:45536)
• at E14.5, many homozygotes exhibit prominent liver necrosis (J:45536)

embryogenesis
• at E9.5, homozygous mutant embryos exhibit an open cranial neural tube (J:45536)
• at E9.5, homozygous mutant embryos exhibit an open cranial neural tube (J:45536)

integument
• at E18.5, most homozygotes show pallor despite normal hematocrits (J:45536)
• at E18.5, most homozygotes show pallor despite normal hematocrits (J:45536)

Mouse Models of Human Disease
OMIM ID Ref(s)
Barth Syndrome; BTHS 302060 J:45536


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory