Phenotypes associated with this allele

• Allele Symbol: Slc7a1^tm1Rbmn
• Allele Name: targeted mutation 1, Robert A Bosselman
• Allele ID: MGI:3513834
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc7a1^tm1Rbmn/Slc7a1^tm1Rbmn	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: C57BL/6)	MGI:3514022

Genotype
MGI:3514022

hm1

• Allelic Composition: Slc7a1^tm1Rbmn/Slc7a1^tm1Rbmn
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: C57BL/6)

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

mortality/aging

neonatal lethality, complete penetrance ( J:39649 )

• all homozygotes died on the first day after birth

cellular

abnormal cell physiology ( J:39649 )

• E15.5 MEFs were completely resistant to Moloney murine leukemia virus infection

growth/size/body

decreased body size ( J:39649 )

decreased body weight ( J:39649 )

• weighed 25% less than wild-types or heterozygotes

hematopoietic system

anemia ( J:39649 )

• anemia first became apparent at about E12.5 and persisted throughout development

abnormal proerythroblast morphology ( J:39649 )

• erythroid precursors were reduced in bone marrow, spleen, and liver

decreased erythrocyte cell number ( J:39649 )

• the level of circulating erythrocytes was decreased by 53%

• reduced number of erythrocytes in bone marrow, spleen and liver of newborn mice

decreased hemoglobin content ( J:39649 )

• total hemoglobin was reduced by 67%

decreased mean corpuscular hemoglobin ( J:39649 )

• mean corpuscular hemoglobin was reduced by 29%

increased nucleated erythrocyte cell number ( J:39649 )

• large increase in the number of circulating nucleated red blood cells (mostly intermediate and late normoblasts) in newborns

anisopoikilocytosis ( J:39649 )

• mature red blood cells are very pale, vary in size and have an irregular appearance

abnormal reticulocyte morphology ( J:39649 )

• reticulocytes were morphologically abnormal and reduced in number