Phenotypes associated with this allele

• Allele Symbol: Myh9^{tm1.1(MYH9*)Mjk}
• Allele Name: targeted mutation 1.1, Michael J Kelley
• Allele ID: MGI:5285646
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myh9^tm1.1(MYH9*)Mjk/Myh9^tm1.1(MYH9*)Mjk	B6.129-Myh9^tm1.1(MYH9*)Mjk	MGI:5499736
ht2	Myh9^tm1.1(MYH9*)Mjk/Myh9^+	B6.Cg-Myh9^tm1.1(MYH9*)Mjk	MGI:5499734

Genotype
MGI:5499736

hm1

• Allelic Composition: Myh9^{tm1.1(MYH9*)Mjk}/Myh9^{tm1.1(MYH9*)Mjk}
• Genetic Background: B6.129-Myh9^{tm1.1(MYH9*)Mjk}

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

hematopoietic system

abnormal megakaryocyte morphology ( J:175367 )

• with neutrophil inclusions in the bone marrow

abnormal neutrophil morphology ( J:175367 )

• contain Myh9 aggregates

abnormal platelet morphology ( J:175367 )

• increased diameter

thrombocytopenia ( J:175367 )

• macrothrombocytopenia

homeostasis/metabolism

increased bleeding time ( J:175367 )

albuminuria ( J:175367 )

renal/urinary system

albuminuria ( J:175367 )

glomerulosclerosis ( J:175367 )

• focal segmental glomerulosclerosis and focal global glomerulosclerosis beginning at 4 months

immune system

abnormal neutrophil morphology ( J:175367 )

• contain Myh9 aggregates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
MYH-9 related disease		DOID:0060651	OMIM:155100	J:175367

Genotype
MGI:5499734

ht2

• Allelic Composition: Myh9^{tm1.1(MYH9*)Mjk}/Myh9⁺
• Genetic Background: B6.Cg-Myh9^{tm1.1(MYH9*)Mjk}

vision/eye

cornea vascularization ( J:175367 )

• with mild inflammatory cellular infiltration

abnormal lens fiber morphology ( J:175367 )

• liquefaction of lens fibers

cataract ( J:175367 )

• bilateral in some mice with swelling, lens epithelial proliferation and degeneration, and liquefaction of lens fibers

abnormal eye physiology ( J:175367 )

• lens epithelial proliferation and degeneration

• liquefaction of lens fibers

increased incidence of corneal inflammation ( J:175367 )

• mild inflammatory cellular infiltration

hematopoietic system

abnormal neutrophil morphology ( J:175367 )

• contain Myh9 aggregates

abnormal platelet morphology ( J:175367 )

• increased diameter

thrombocytopenia ( J:175367 )

• macrothrombocytopenia

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:175367 )

increased susceptibility to age-related hearing loss ( J:175367 )

• progressive hearing loss with age

homeostasis/metabolism

increased bleeding time ( J:175367 )

albuminuria ( J:175367 )

renal/urinary system

albuminuria ( J:175367 )

immune system

abnormal neutrophil morphology ( J:175367 )

• contain Myh9 aggregates

increased incidence of corneal inflammation ( J:175367 )

• mild inflammatory cellular infiltration

cardiovascular system

cornea vascularization ( J:175367 )

• with mild inflammatory cellular infiltration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
MYH-9 related disease		DOID:0060651	OMIM:155100	J:175367