Phenotypes associated with this allele

• Allele Symbol: Pus1^em1Yachu
• Allele Name: endonuclease-mediated mutation 1, Yajing Chu
• Allele ID: MGI:8343241
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pus1^em1Yachu/Pus1^em1Yachu	Not Specified	MGI:8343250

Genotype
MGI:8343250

hm1

• Allelic Composition: Pus1^em1Yachu/Pus1^em1Yachu
• Genetic Background: Not Specified

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

hematopoietic system

hematopoietic system phenotype ( J:351638 )

N • normal number of peripheral blood cells and platelets at age 4 weeks

N • normal number of hematopoietic stem and progenitor cells (HSPCs)

anemia ( J:351638 )

• at age 4 weeks

increased erythroblast number ( J:351638 )

• higher numbers/proportion of proerythroblasts and basophilic erythroblasts in bone marrow at age 4 weeks

• higher numbers/proportion of basophilic and chromatophilic erythroblasts in spleen at age 4 weeks

decreased erythrocyte cell number ( J:351638 )

• at age 4 weeks

decreased hemoglobin content ( J:351638 )

• at age 4 weeks

decreased spleen weight ( J:351638 )

• at age 4 weeks

cellular

cellular phenotype ( J:351638 )

N • normal mitochondrial mass in erythroblasts at age 4 weeks

decreased mitochondria enzyme/coenzyme activity ( J:351638 )

• reduced complex III activity in spleen and bone marrow at age 4 weeks

increased mitochondria enzyme/coenzyme activity ( J:351638 )

• increased complex I activity in spleen and bone marrow at age 4 weeks

abnormal oxidative phosphorylation ( J:351638 )

• decreased oxygen consumption of mitochondria in bone marrow erythroblasts at age 4 weeks

abnormal translation ( J:351638 )

• decreased cytoplasmic translation efficiency in erythroblasts at age 4 weeks

oxidative stress ( J:351638 )

• increased ROS levels in erythroblasts from spleen and bone marrow at age 4 weeks

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:351638 )

N • normal serum iron levels at age 4 weeks

decreased mitochondria enzyme/coenzyme activity ( J:351638 )

• reduced complex III activity in spleen and bone marrow at age 4 weeks

increased mitochondria enzyme/coenzyme activity ( J:351638 )

• increased complex I activity in spleen and bone marrow at age 4 weeks

abnormal translation ( J:351638 )

• decreased cytoplasmic translation efficiency in erythroblasts at age 4 weeks

immune system

decreased spleen weight ( J:351638 )

• at age 4 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myopathy, lactic acidosis, and sideroblastic anemia 1		DOID:0111185	OMIM:600462	J:351638