Phenotypes associated with this allele

• Allele Symbol: Slc11a2^mk
• Allele Name: microcytic anemia
• Allele ID: MGI:1856400
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc11a2^mk/Slc11a2^mk	129S6.MK-Slc11a2^mk	MGI:3578663
hm2	Slc11a2^mk/Slc11a2^mk	involves: C57BL/6J * DBA/2J * WB/Re	MGI:3767059
hm3	Slc11a2^mk/Slc11a2^mk	MK/ReJ	MGI:3578662
hm4	Slc11a2^mk/Slc11a2^mk	SEC.Cg-Slc11a2^mk	MGI:4820598
cx5	Hfe^tm2Nca/Hfe^tm2Nca Slc11a2^mk/Slc11a2^mk	involves: 129S6/SvEvTac * C57BL/6J * MK/ReJ	MGI:2655485

Genotype
MGI:3578663

hm1

• Allelic Composition: Slc11a2^mk/Slc11a2^mk
• Genetic Background: 129S6.MK-Slc11a2^mk

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

mortality/aging

mortality/aging ( J:98088 )

N • Background Sensitivity: nearly 100% survival to adulthood on a 129S6.Mk/ReJ background

homeostasis/metabolism

increased liver iron level ( J:98088 )

• liver non-heme iron levels higher than in knock-out mice

liver/biliary system

increased liver iron level ( J:98088 )

• liver non-heme iron levels higher than in knock-out mice

Genotype
MGI:3767059

hm2

• Allelic Composition: Slc11a2^mk/Slc11a2^mk
• Genetic Background: involves: C57BL/6J * DBA/2J * WB/Re

hematopoietic system

increased erythrocyte protoporphyrin level ( J:5985 )

• red blood cell protoporphyrin levels are higher than in controls

homeostasis/metabolism

increased erythrocyte protoporphyrin level ( J:5985 )

• red blood cell protoporphyrin levels are higher than in controls

Genotype
MGI:3578662

hm3

• Allelic Composition: Slc11a2^mk/Slc11a2^mk
• Genetic Background: MK/ReJ

cellular

maternal effect ( J:5167 )

• homozygous embryos of homozygous mothers have a higher proportion of erythrocytes with pale stain for hemoglobin than do those of heterozygous mothers

mortality/aging

postnatal lethality, incomplete penetrance ( J:5167 , J:98088 )

• many homozygotes die between 1 and 3 weeks of age (J:5167)

• Background Sensitivity: only 10% survive to weaning on the MK/ReJ background (J:98088)

hematopoietic system

increased spleen weight ( J:5167 )

• mean splenic weight in adults is 206mg versus 88mg in heterozygotes

hypochromic microcytic anemia ( J:5167 , J:162917 )

• homozygotes can be identified at birth by their pale color due to the small erythrocytes with diminished hemoglobin content, although the red cell counts are not significantly lower than normal (J:5167)

high mean erythrocyte cell number ( J:5167 )

• at 6 and 8 weeks of age all homozygotes have considerably increased erythrocyte numbers with low mean cell volumes

decreased hematocrit ( J:5167 )

• homozygotes from 10-30 weeks of age have a mean hematocrit of 38.9% while 10-20 week old heterozygous controls have a mean hematocrit of 49.7%

decreased cellular hemoglobin content ( J:5167 )

decreased hemoglobin content ( J:5167 , J:162917 )

• severely decreased in adults and as early as embryonic day 15 hemoglobin stain is pale in an abnormally high proportion of erythrocytes (J:5167)

• Background Sensitivity: hemoglobin concentration in circulating blood ranges from 8.2 to 10.6 g/ml compared with 16.1 to 17.0 in wildtype controls (J:162917)

decreased mean corpuscular hemoglobin ( J:5167 )

anisocytosis ( J:162917 )

microcytosis ( J:5167 )

• found as early as embryonic day 15 and persisting into adulthood

reticulocytosis ( J:5167 , J:162917 )

• homozygotes from 10-30 weeks of age have 5.3-28% reticulocytes compared with 10-20 week old heterozygotes with 1.1-5.2% reticulocytes (J:5167)

• reticulocyte concentration of 15-23% compared with 3-4% in wild-type controls (J:162917)

increased erythrocyte clearance ( J:162917 )

• mean red blood cell lifespan of 24 days compared with 45 days in controls

hemolysis ( J:162917 )

homeostasis/metabolism

abnormal iron homeostasis ( J:100202 )

• decrease in total iron uptake and a decrease in the incorportation of iron into heme by reticulocytes

• intraerythroid defects in iron metabolism with the erythrocyte zinc protoporphrin IX to heme (Znpp/H) ratio increased by 3.2 fold

immune system

increased spleen weight ( J:5167 )

• mean splenic weight in adults is 206mg versus 88mg in heterozygotes

reproductive system

reduced female fertility ( J:5167 )

♀

growth/size/body

decreased body weight ( J:5167 )

• although normal in weight at birth, by 1 week of age homozygotes have a lower body weight than heterozygous controls and this persists into adulhood

increased spleen weight ( J:5167 )

• mean splenic weight in adults is 206mg versus 88mg in heterozygotes

liver/biliary system

liver/biliary system phenotype ( J:5167 )

N • no evidence of jaundice

integument

skin lesions ( J:5167 )

• homozygotes can develop skin lesions in the postnatal period

Genotype
MGI:4820598

hm4

• Allelic Composition: Slc11a2^mk/Slc11a2^mk
• Genetic Background: SEC.Cg-Slc11a2^mk

mortality/aging

postnatal lethality ( J:5167 )

• many homozygotes die between 1 and 3 weeks of age

cellular

maternal effect ( J:5167 )

• homozygous embryos of homozygous mothers have a higher proportion of erythrocytes with pale stain for hemoglobin than do those of heterozygous mothers

hematopoietic system

increased spleen weight ( J:5167 )

hypochromic microcytic anemia ( J:5167 , J:162917 )

• homozygotes can be identified at birth by their pale color due to the small erythrocytes with diminished hemoglobin content, although the red cell counts are not significantly lower than normal (J:5167)

high mean erythrocyte cell number ( J:5167 )

• at 6 and 8 weeks of age all homozygotes have considerably increased erythrocyte numbers with low mean cell volumes

decreased hematocrit ( J:5167 )

• at 8 weeks of age females have a mean hematocrit of 38.9% compared with 48.5% in heterozygous controls and males have a mean hematocrit of 40.3% compared with 50% in heterozygous controls

decreased cellular hemoglobin content ( J:5167 )

decreased hemoglobin content ( J:5167 , J:162917 )

• decreased in females from 17.1g in heterozygous controls to 20.6g per 100 cc blood and in males from 17.8g in heterozygous controls to 11.2g per 100cc blood (J:5167)

• as early as embryonic day 15 hemoglobin stain is pale in an abnormally high proportion of erythrocytes (J:5167)

• Background Sensitivity: hemoglobin concentration in circulating blood ranges from 6.1 to 7.8 g/ml compared with 16.1 to 17.0 in wildtype controls (J:162917)

decreased mean corpuscular hemoglobin ( J:5167 )

• decreased from 17.4g to 8g per 100cc packed red cells in females and from 16.3g to 8g per 100cc packed red cells in males

anisocytosis ( J:162917 )

microcytosis ( J:5167 )

• found as early as embryonic day 15 and persisting into adulthood

reticulocytosis ( J:5167 , J:162917 )

• reticulocyte concentration of 15-23% compared with 3-4% in wild-type controls (J:162917)

increased erythrocyte clearance ( J:162917 )

• Background Sensitivity: mean red blood cell lifespan of 15 days compared with 45 days in controls, with splenectomy increasing red blood cell lifespan to 23 days

hemolysis ( J:162917 )

decreased erythrocyte osmotic fragility ( J:5167 )

• the red blood cell population contains a smaller population of osmotically sensitive cells and a larger population of osmotically resistant cells

growth/size/body

decreased body weight ( J:5167 )

• although normal in weight at birth, by 1 week of age homozygotes have a lower body weight than heterozygous controls and this persists into adulhood

increased spleen weight ( J:5167 )

immune system

increased spleen weight ( J:5167 )

reproductive system

reduced female fertility ( J:5167 )

♀

liver/biliary system

liver/biliary system phenotype ( J:5167 )

N • no evidence of jaundice

integument

skin lesions ( J:5167 )

• homozygotes can develop skin lesions in the postnatal period

Genotype
MGI:2655485

cx5

• Allelic Composition: Hfe^tm2Nca/Hfe^tm2Nca; Slc11a2^mk/Slc11a2^mk
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * MK/ReJ

mortality/aging

postnatal lethality ( J:62112 )

• some mice die prior to weaning

• increased viability relative to Slc11a2^mk homozygous mutant mice

homeostasis/metabolism

decreased liver iron level ( J:62112 )

• hepatic iron levels similar to those observed in Slc11a2^mk homozygous mutant mice

liver/biliary system

decreased liver iron level ( J:62112 )

• hepatic iron levels similar to those observed in Slc11a2^mk homozygous mutant mice