Phenotypes associated with this allele

• Allele Symbol: Hbb^d4
• Allele Name: diffuse 4
• Allele ID: MGI:1856044
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hbb^d4/Hbb^d4	involves: 101/H	MGI:5050109
ht2	Hbb^d4/Hbb^+	involves: 101/H	MGI:5050124

Genotype
MGI:5050109

hm1

• Allelic Composition: Hbb^d4/Hbb^d4
• Genetic Background: involves: 101/H

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

hematopoietic system

enlarged spleen ( J:7972 )

• characteristic of young adult mice

increased erythrocyte cell number ( J:7972 )

polycythemia ( J:7972 )

increased hematocrit ( J:7972 )

abnormal hemoglobin ( J:7972 )

• hemoglobin has high oxygen affinity

increased mean corpuscular hemoglobin concentration ( J:7972 )

abnormal macrophage morphology ( J:7972 )

• in young adults more iron then normal is found in spleen red pulp, liver, and lymph nodes

increased spleen red pulp amount ( J:7972 )

• in young adults red pulp is grossly hyperplastic with myeloid, mainly erythropoietic, tissue

abnormal bone marrow cell physiology ( J:7972 )

• in young adult mice active hematopoietic marrow extended throughout the tibia to bones of the tarsus and metatarsus

integument

abnormal skin appearance ( J:7972 )

• ears, feet, and tail are markedly more pink then heterozgotes or normal wild-type mice

reddish skin ( J:7972 )

• manifests as markedly pink ears, feet, and tail

homeostasis/metabolism

increased blood oxygen capacity ( J:7972 )

• mean pO₂ at 50% saturation found to be 11.4 +/- 0.5 mm Hg, normal range being 46.2 +/- 2.0 mm Hg

immune system

enlarged spleen ( J:7972 )

• characteristic of young adult mice

abnormal macrophage morphology ( J:7972 )

• in young adults more iron then normal is found in spleen red pulp, liver, and lymph nodes

increased spleen red pulp amount ( J:7972 )

• in young adults red pulp is grossly hyperplastic with myeloid, mainly erythropoietic, tissue

cardiovascular system

cardiac hypertrophy ( J:7972 )

• characteristic of young adult mice

reproductive system

female infertility ( J:7972 )

♀ • females breed by evidence of vaginal plug but do not produce offspring

decreased litter size ( J:7972 )

• males are fertile but litter size is smaller than normal compared with controlled matings

mortality/aging

postnatal lethality, incomplete penetrance ( J:7972 )

• increased death of this genotype between birth and 18 days

growth/size/body

cardiac hypertrophy ( J:7972 )

• characteristic of young adult mice

enlarged spleen ( J:7972 )

• characteristic of young adult mice

Genotype
MGI:5050124

ht2

• Allelic Composition: Hbb^d4/Hbb⁺
• Genetic Background: involves: 101/H

hematopoietic system

increased erythrocyte cell number ( J:7972 )

• increase less marked compared with homozygotes

polycythemia ( J:7972 )

increased hematocrit ( J:7972 )

• increase less marked compared with homozygotes

increased mean corpuscular hemoglobin concentration ( J:7972 )

homeostasis/metabolism

increased blood oxygen capacity ( J:7972 )

• at 28.8 +/- 0.5 mm Hg, the mean pO₂ at 50% saturation is intermediate between that of a homozygous, 11.4 +/- 0.5 mm Hg, and a normal mouse, 46.2 +/- 2.0 mm Hg