Phenotypes Associated with This Genotype

Genotype
MGI:3807528

• Allelic Composition: Flvcr1^tm1.1Jlab/Flvcr1^tm1.1Jlab
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2

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

growth/size/body

enlarged heart ( J:132057 )

• cardiomegaly observed upon necropsy at 4-6 weeks, after cre induction at 1 week postnatal

decreased body size ( J:132057 )

• by 4 weeks of age, mice are runted, after cre induction at 1 week postnatal

enlarged spleen ( J:132057 )

• observed upon necropsy at 4-6 weeks, after cre induction at 1 week postnatal

cardiovascular system

enlarged heart ( J:132057 )

• cardiomegaly observed upon necropsy at 4-6 weeks, after cre induction at 1 week postnatal

hematopoietic system

abnormal erythropoiesis ( J:132057 )

• bone marrow shows block in erythroid maturation at proerythroblast stage; this is also observed in liver and spleen

anemia ( J:132057 )

• mice develop pure red cell aplasia (PRCA)

hyperchromic macrocytic anemia ( J:132057 )

• observed at 6 weeks of age, following cre induction at 1 week postnatal

reticulocytopenia ( J:132057 )

• mice show reticulocytopenia by 6 weeks of age, following cre induction at 1 week postnatal

abnormal spleen morphology ( J:132057 )

• enlarged spleens have expanded interfollicular regions

enlarged spleen ( J:132057 )

• observed upon necropsy at 4-6 weeks, after cre induction at 1 week postnatal

immune system

abnormal spleen morphology ( J:132057 )

• enlarged spleens have expanded interfollicular regions

enlarged spleen ( J:132057 )

• observed upon necropsy at 4-6 weeks, after cre induction at 1 week postnatal

limbs/digits/tail

abnormal autopod morphology ( J:132057 )

• by 4 weeks of age, mice have pale paws, after cre induction at 1 week postnatal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Diamond-Blackfan anemia		DOID:1339	OMIM:PS105650	J:132057