Phenotypes associated with this allele

• Allele Symbol: Ttc7^hea
• Allele Name: hereditary erythroblastic anemia
• Allele ID: MGI:1856896
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttc7^hea/Ttc7^hea	CFO	MGI:3055886
hm2	Ttc7^hea/Ttc7^hea	WBB6F1	MGI:3055887

Genotype
MGI:3055886

hm1

• Allelic Composition: Ttc7^hea/Ttc7^hea
• Genetic Background: CFO

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

mortality/aging

postnatal lethality, complete penetrance ( J:7515 )

• death 15-25 days after birth

pigmentation

abnormal skin pigmentation ( J:7515 )

• yellow skin color

growth/size/body

decreased body weight ( J:7515 )

• apparent in 17 day old mice

enlarged spleen ( J:7515 )

• develops postnatally

hematopoietic system

enlarged spleen ( J:7515 )

• develops postnatally

abnormal definitive hematopoiesis ( J:7515 )

• elevated numbers of mature myeloid and reticulocyte cells in circulation

anemia ( J:7515 )

decreased megakaryocyte cell number ( J:7515 )

• reduced numbers of megakaryocytes in bone marrow by 21 days

erythroblastosis ( J:7515 )

• erythroblasts represent 98.5% of total circulating nucleated cells

• many are abnormal with naked nuclei

• few immature erythroblasts

abnormal erythrocyte morphology ( J:7515 )

abnormal erythrocyte cell number ( J:7515 )

low mean erythrocyte cell number ( J:7515 )

• reduced by 50% at 17 days

decreased hematocrit ( J:7515 )

• reduced by 50% at 17 days

decreased hemoglobin content ( J:7515 )

• reduced by 50% at 17 days

anisocytosis ( J:7515 )

poikilocytosis ( J:7515 )

polychromatophilia ( J:7515 )

increased leukocyte cell number ( J:7515 )

reticulocytosis ( J:7515 )

homeostasis/metabolism

colorless urine ( J:7515 )

immune system

enlarged spleen ( J:7515 )

• develops postnatally

increased leukocyte cell number ( J:7515 )

renal/urinary system

colorless urine ( J:7515 )

integument

abnormal skin pigmentation ( J:7515 )

• yellow skin color

Genotype
MGI:3055887

hm2

• Allelic Composition: Ttc7^hea/Ttc7^hea
• Genetic Background: WBB6F1

mortality/aging

postnatal lethality ( J:92699 )

• die 5 to 7 days after birth

growth/size/body

decreased body weight ( J:92699 )

hematopoietic system

extramedullary hematopoiesis ( J:92699 )

• in liver and spleen

anemia ( J:92699 )

• erythroblastic anemia

erythroblastosis ( J:92699 )

abnormal erythrocyte morphology ( J:92699 )

abnormal erythropoiesis ( J:92699 )

• elevated numbers of erythroblasts, naked nuclei and smudge cells in peripheral circulation

abnormal erythrocyte cell number ( J:92699 )

low mean erythrocyte cell number ( J:92699 )

• by 7 days

decreased hematocrit ( J:92699 )

• by 7 days

decreased hemoglobin content ( J:92699 )

• by 7 days

anisocytosis ( J:92699 )

poikilocytosis ( J:92699 )

polychromatophilia ( J:92699 )

homeostasis/metabolism

abnormal mineral level ( J:92699 )

• elevation in zinc protoporphyrin

increased circulating iron level ( J:92699 )

• elevation in serum iron by 7 days

liver/biliary system

abnormal hepatocyte morphology ( J:92699 )

• accumulation of iron

integument

epidermal necrosis ( J:92699 )

• superficial epidermal necrosis

• coagulative necrosis on tail

hyperkeratosis ( J:92699 )

• hyperkeratosis, crusty skin with infoldings

epidermal hyperplasia ( J:92699 )

• basal epidermal hyperplasia

pallor ( J:92699 )

• identified at birth by pale color

cellular

epidermal necrosis ( J:92699 )

• superficial epidermal necrosis

• coagulative necrosis on tail