Phenotypes associated with this allele

• Allele Symbol: Hbb-b1^MommeD7
• Allele Name: modifier of murine metastable epialleles, D7
• Allele ID: MGI:3821597
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hbb-b1^MommeD7/Hbb-b1^MommeD7	involves: FVB/N	MGI:3821602
ht2	Hbb-b1^MommeD7/Hbb-b1^+	involves: FVB/N	MGI:3821603
ht3	Hbb-b1^Rbc13/Hbb-b1^MommeD7	involves: BALB/c * C57BL/6 * FVB/N	MGI:5460887
cx4	Hbb-b1^MommeD7/Hbb-b1^tm1Unc Hbb-b2^tm1Unc/Hbb-b2^+	involves: 129P2/OlaHsd * FVB/N	MGI:5460890

Genotype
MGI:3821602

hm1

• Allelic Composition: Hbb-b1^MommeD7/Hbb-b1^MommeD7
• Genetic Background: involves: FVB/N

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:190446 )

• die by E18.5

postnatal lethality ( J:142335 )

• semidominant homozygous lethal

• never seen at weaning

• death occurs within a few days of birth

hematopoietic system

decreased erythrocyte cell number ( J:142335 )

• at E17.5

integument

pallor ( J:142335 , J:190446 )

• about 1/4 of mice are pale in color at E17.5 (J:142335)

• progressive pallor starting at E16.5 (J:190446)

liver/biliary system

abnormal liver morphology ( J:190446 )

• fetal livers contain poorly hemoglobinized erythroblasts with inclusions

liver hypoplasia ( J:190446 )

• fewer fetal liver cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:190446

Genotype
MGI:3821603

ht2

• Allelic Composition: Hbb-b1^MommeD7/Hbb-b1⁺
• Genetic Background: involves: FVB/N

hematopoietic system

enlarged spleen ( J:142335 , J:190446 )

• severe (J:142335)

• increased 5-fold in size (J:190446)

abnormal definitive hematopoiesis ( J:190446 )

• occasional basophilic stippling in peripheral blood smears

extramedullary hematopoiesis ( J:190446 )

microcytic anemia ( J:190446 )

• at 7 weeks of age

hypochromic microcytic anemia ( J:190446 )

decreased mean corpuscular hemoglobin ( J:190446 )

• at 7 weeks of age

decreased mean corpuscular volume ( J:190446 )

increased nucleated erythrocyte cell number ( J:190446 )

• increase of immature CD71+ TER-119+ erythroid cells

increased red blood cell distribution width ( J:190446 )

• at 7 weeks of age

anisocytosis ( J:190446 )

• marked

anisopoikilocytosis ( J:190446 )

leptocytosis ( J:190446 )

• abundant target cells

poikilocytosis ( J:190446 )

schistocytosis ( J:190446 )

• mild red cell fragmentation

polychromatophilia ( J:190446 )

spherocytosis ( J:190446 )

reticulocytosis ( J:142335 )

• a 3 fold increase in the number of circulating reticulocytes

increased spleen red pulp amount ( J:190446 )

increased erythrocyte clearance ( J:190446 )

• a 50% reduction in red cell half-life

immune system

enlarged spleen ( J:142335 , J:190446 )

• severe (J:142335)

• increased 5-fold in size (J:190446)

increased spleen red pulp amount ( J:190446 )

growth/size/body

enlarged spleen ( J:142335 , J:190446 )

• severe (J:142335)

• increased 5-fold in size (J:190446)

Genotype
MGI:5460887

ht3

• Allelic Composition: Hbb-b1^Rbc13/Hbb-b1^MommeD7
• Genetic Background: involves: BALB/c * C57BL/6 * FVB/N

integument

pallor ( J:190446 )

• at E16.5 phenotype is similar to mice homozygous for either allele

Genotype
MGI:5460890

cx4

• Allelic Composition: Hbb-b1^MommeD7/Hbb-b1^tm1Unc; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:190446 )

• die by E18.5

hematopoietic system

anemia ( J:190446 )

• severe