Phenotypes associated with this allele

• Allele Symbol: Xirp1^tm1Jl
• Allele Name: targeted mutation 1, Jim Lin
• Allele ID: MGI:3521795
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Xirp1^tm1Jl/Xirp1^tm1Jl	involves: 129	MGI:3656023
ht2	Xirp1^tm1Jl/Xirp1^+	involves: 129	MGI:5906605

Genotype
MGI:3656023

hm1

• Allelic Composition: Xirp1^tm1Jl/Xirp1^tm1Jl
• Genetic Background: involves: 129

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal myocardial fiber morphology ( J:112201 , J:132079 )

• 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)

abnormal intercalated disk morphology ( J:112201 , 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)

increased myocardial fiber size ( J:132079 )

• myofiber width is increased indicating cardiomyocyte hypertrophy

abnormal ventricle myocardium morphology ( J:132079 )

• thickening of the ventricular myocardial wall

abnormal trabecula carnea morphology ( J:132079 )

• heart ventricles show increased trabeculation

enlarged heart ( J:132079 )

• hearts are modestly enlarged at 9 months of age

cardiac hypertrophy ( J:112201 , J:132079 )

• 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)

cardiac interstitial fibrosis ( J:132079 )

• progressive increase in interstitial fibrosis from 3 to 14 months of age

prolonged P wave ( J:132079 )

prolonged QT interval ( J:132079 )

abnormal myocardial fiber currents ( J:132079 )

• 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

abnormal myocardial fiber calcium currents ( J:132079 )

• cardiomyocytes show a decrease in L-type calcium currents

abnormal myocardial fiber sodium currents ( J:132079 )

• cardiomyocytes show an increase in sodium inward currents

cardiomyopathy ( J:132079 )

• hypertrophic cardiomyopathy

muscle

abnormal myocardial fiber morphology ( J:112201 , J:132079 )

• 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)

abnormal intercalated disk morphology ( J:112201 , 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)

increased myocardial fiber size ( J:132079 )

• myofiber width is increased indicating cardiomyocyte hypertrophy

abnormal ventricle myocardium morphology ( J:132079 )

• thickening of the ventricular myocardial wall

abnormal trabecula carnea morphology ( J:132079 )

• heart ventricles show increased trabeculation

cardiomyopathy ( J:132079 )

• hypertrophic cardiomyopathy

abnormal sarcomere morphology ( J:132079 )

• cardiac sarcomeres appear distorted and compacted, with the length from Z line to Z line decreased

abnormal A band morphology ( J:132079 )

• A bands are not well defined in severely affected areas of the heart

abnormal I band morphology ( J:132079 )

• I bands are not well defined in severely affected areas of the heart

diffuse Z line ( J:132079 )

• cardiac myofibrils show diffuse and widened Z lines

growth/size/body

enlarged heart ( J:132079 )

• hearts are modestly enlarged at 9 months of age

cardiac hypertrophy ( J:112201 , J:132079 )

• 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)

cellular

cardiac interstitial fibrosis ( J:132079 )

• progressive increase in interstitial fibrosis from 3 to 14 months of age

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

Genotype
MGI:5906605

ht2

• Allelic Composition: Xirp1^tm1Jl/Xirp1⁺
• Genetic Background: involves: 129

cardiovascular system

increased myocardial fiber size ( J:132079 )

• myofiber width is increased indicating cardiomyocyte hypertrophy

abnormal ventricle myocardium morphology ( J:132079 )

• thickening of the ventricular myocardial wall

abnormal trabecula carnea morphology ( J:132079 )

• heart ventricles show increased trabeculation

enlarged heart ( J:132079 )

• hearts are modestly enlarged at 9 months of age although the heart-to-body weight ratio only shows a trend toward enlargement

cardiac hypertrophy ( J:132079 )

• hearts are enlarged, show thickening of the ventricular myocardial wall and increased trabeculae indicating cardiac hypertrophy

cardiac interstitial fibrosis ( J:132079 )

• increase in interstitial fibrosis at 14 months of age

cardiomyopathy ( J:132079 )

• hypertrophic cardiomyopathy

muscle

increased myocardial fiber size ( J:132079 )

• myofiber width is increased indicating cardiomyocyte hypertrophy

abnormal ventricle myocardium morphology ( J:132079 )

• thickening of the ventricular myocardial wall

abnormal trabecula carnea morphology ( J:132079 )

• heart ventricles show increased trabeculation

cardiomyopathy ( J:132079 )

• hypertrophic cardiomyopathy

growth/size/body

enlarged heart ( J:132079 )

• hearts are modestly enlarged at 9 months of age although the heart-to-body weight ratio only shows a trend toward enlargement

cardiac hypertrophy ( J:132079 )

• hearts are enlarged, show thickening of the ventricular myocardial wall and increased trabeculae indicating cardiac hypertrophy

cellular

cardiac interstitial fibrosis ( J:132079 )

• increase in interstitial fibrosis at 14 months of age