Phenotypes Associated with This Genotype

Genotype
MGI:3769338

• Allelic Composition: Ahsp^tm1.1Mjwe/Ahsp^tm1.1Mjwe; Hbb-b1^tm1Unc/Hbb-b1⁺; Hbb-b2^tm1Unc/Hbb-b2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:94421 )

• live-born offspring are reduced by ~50% relative to expected values (observed - 6; expected - 13.7)

hematopoietic system

anemia ( J:94421 )

• embryos are anemic

• survivors are more anemic in early adulthood than thalassemic mice that are wild-type or heterozygous for Eraf expression

abnormal erythrocyte morphology ( J:94421 )

• more erythrocytes containing inclusion bodies are observed in mutants compared to mice with thalassemia alone

decreased hematocrit ( J:94421 )

• decreased to 22.6% from 27.5% in thalassemic embryos with wild-type or heterozygous Eraf expression (or ~55% in wild-type embryos); variability is larger with Eraf-deficiency with hematocrit values in some mice of ~16%

increased hemoglobin concentration distribution width ( J:94421 )

• greater variation in hemoglobin content of mutant erythrocytes, evidenced by increased hemoglobin distribution width (HDW), is observed compared to thalassemic mice that are wild-type or heterozygous for Eraf expression

decreased mean corpuscular volume ( J:94421 )

• mice have smaller red blood cells with lower mean corpuscular volume than thalassemic mice alone

increased nucleated erythrocyte cell number ( J:94421 )

• increased numbers of nucleated liver-derived definitive erythrocytes are detected

anisocytosis ( J:94421 )

• greater variation in size of erythrocytes as shown by increased red blood cell distribution width (RBW) compared to thalassemic mice that are wild-type or heterozygous for Eraf expression

increased number of Heinz bodies ( J:94421 )

• erythrocytes have more prominent inclusion bodies (composed of denatured hemoglobin chains (Heinz bodies)) than thalassemic mice that are wild-type or heterozygous for Eraf expression

• erythrocytes show predominantly alpha-globin precipitate

integument

pallor ( J:94421 )

• embryos are pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:94421