Phenotypes associated with this allele

• Allele Symbol: Abca5^tm1Akya
• Allele Name: targeted mutation 1, Akihito Yamaguchi
• Allele ID: MGI:3581814
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abca5^tm1Akya/Abca5^tm1Akya	involves: C57BL/6NCrj * CBA/JNCrj	MGI:3582675
hm2	Abca5^tm1Akya/Abca5^tm1Akya	involves: C57BL/6NCrlj * CBA/JNCrlj * ICR	MGI:3582676

Genotype
MGI:3582675

hm1

• Allelic Composition: Abca5^tm1Akya/Abca5^tm1Akya
• Genetic Background: involves: C57BL/6NCrj * CBA/JNCrj

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

cardiovascular system

myocardial fiber degeneration ( J:99152 )

• degenerated cardiomyocytes with vacuolation and accumulation of autolysosomes and autophagososmes

dilated cardiomyopathy ( J:99152 )

• likely the result of depressed heart function

homeostasis/metabolism

abnormal cardiac thrombosis ( J:99152 )

• large organized thrombi are seen in the heart

endocrine/exocrine glands

abnormal thyroid follicle morphology ( J:99152 )

• collapse of follicles is seen in the thyroid

absent thyroid gland ( J:99152 )

• in some homozygotes complete collapse of follicles results in no detectable thyroid gland

decreased activity of thyroid gland ( J:99152 )

• levels of thyroid hormones are slightly lower at 3 weeks of age and dramatically lower in older homozygotes with dilated cardiomyopathy and exophthalmos

vision/eye

exophthalmos ( J:99152 )

• in homozygotes over 10 weeks of age

liver/biliary system

abnormal liver physiology ( J:99152 )

• Background Sensitivity: unlike mice crossed to ICR, no liver injury is seen

• increases in some plasma biochemical markers of liver function (glutamic pyruvic transaminase and glutamic oxaloacetic transaminase) are seen

muscle

myocardial fiber degeneration ( J:99152 )

• degenerated cardiomyocytes with vacuolation and accumulation of autolysosomes and autophagososmes

dilated cardiomyopathy ( J:99152 )

• likely the result of depressed heart function

Genotype
MGI:3582676

hm2

• Allelic Composition: Abca5^tm1Akya/Abca5^tm1Akya
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj * ICR

mortality/aging

premature death ( J:99152 )

• Background Sensitivity: not seen in homozygotes backcrossed to C57BL/6

cardiovascular system

visceral vascular congestion ( J:99152 )

• visceral congestion

myocardial fiber degeneration ( J:99152 )

• degenerated cardiomyocytes with vacuolation and accumulation of autolysosomes and autophagososmes

dilated cardiomyopathy ( J:99152 )

• likely the result of depressed heart function

homeostasis/metabolism

abnormal cardiac thrombosis ( J:99152 )

• large organized thrombi are seen in the heart

edema ( J:99152 )

• in homozygotes over 10 weeks of age subcutaneous edema is seen

• Background Sensitivity: not seen in homozygotes backcrossed to C57BL/6

endocrine/exocrine glands

abnormal thyroid follicle morphology ( J:99152 )

• collapse of follicles is seen in the thyroid

absent thyroid gland ( J:99152 )

• in some homozygotes complete collapse of follicles results in no detectable thyroid gland

decreased activity of thyroid gland ( J:99152 )

• levels of thyroid hormones are slightly lower at 3 weeks of age and dramatically lower in older homozygotes with dilated cardiomyopathy and exophthalmos

vision/eye

exophthalmos ( J:99152 )

• in homozygotes over 10 weeks of age

liver/biliary system

abnormal liver morphology ( J:99152 )

• injured liver and accumulation of blood cells

• Background Sensitivity: not seen in homozygotes backcrossed to C57BL/6

behavior/neurological

tremors ( J:99152 )

• in homozygotes over 10 weeks of age

muscle

myocardial fiber degeneration ( J:99152 )

• degenerated cardiomyocytes with vacuolation and accumulation of autolysosomes and autophagososmes

dilated cardiomyopathy ( J:99152 )

• likely the result of depressed heart function