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Phenotypes Associated with This Genotype
Genotype
MGI:3656023
Allelic
Composition
Xirp1tm1Jl/Xirp1tm1Jl
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xirp1tm1Jl mutation (1 available); any Xirp1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• disarray of myofilaments in the region of the intercalated discs (J:112201)
• the gap junctions near the adherens junctions are present but less frequently and the filamentous web underlying the adherens junction is less dense (J:132079)
• disorganized myofibrils at the adheres junctions are frequently seen in ventricular muscle (J:132079)
• disruption of ultrastructure (J:112201)
• mice exhibit abnormal intercalated disk structure, with an absence of a clear boundary between the A and I bands of sarcomeres, and an aberrant extension of thick filaments in the I band at the intercalated disk (J:132079)
• adjacent faces of the intercalated disks are more detached with greater separation (J:132079)
• myofiber width is increased indicating cardiomyocyte hypertrophy
• thickening of the ventricular myocardial wall
• heart ventricles show increased trabeculation
• hearts are modestly enlarged at 9 months of age
• animals exhibit spontaneous cardiac hypertrophy (J:112201)
• hearts are enlarged, show thickening of the ventricular myocardial wall and increased trabeculae indicating cardiac hypertrophy (J:132079)
• progressive increase in interstitial fibrosis from 3 to 14 months of age
• cardiomyocytes show an increase in sodium inward currents, decrease in L-type calcium currents, decrease in transient outward potassium currents, and barium-sensitive inward rectifier potassium currents
• cardiomyocytes show a decrease in L-type calcium currents
• cardiomyocytes show an increase in sodium inward currents
• hypertrophic cardiomyopathy

muscle
• disarray of myofilaments in the region of the intercalated discs (J:112201)
• the gap junctions near the adherens junctions are present but less frequently and the filamentous web underlying the adherens junction is less dense (J:132079)
• disorganized myofibrils at the adheres junctions are frequently seen in ventricular muscle (J:132079)
• disruption of ultrastructure (J:112201)
• mice exhibit abnormal intercalated disk structure, with an absence of a clear boundary between the A and I bands of sarcomeres, and an aberrant extension of thick filaments in the I band at the intercalated disk (J:132079)
• adjacent faces of the intercalated disks are more detached with greater separation (J:132079)
• myofiber width is increased indicating cardiomyocyte hypertrophy
• thickening of the ventricular myocardial wall
• heart ventricles show increased trabeculation
• hypertrophic cardiomyopathy
• cardiac sarcomeres appear distorted and compacted, with the length from Z line to Z line decreased
• A bands are not well defined in severely affected areas of the heart
• I bands are not well defined in severely affected areas of the heart
• cardiac myofibrils show diffuse and widened Z lines

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy DOID:11984 J:132079


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
12/11/2018
MGI 6.13
The Jackson Laboratory