Phenotypes associated with this allele

• Allele Symbol: Flvcr1^tm1.1Jlab
• Allele Name: targeted mutation 1.1, Janis L Abkowitz
• Allele ID: MGI:3776022
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Flvcr1^tm1.1Jlab/Flvcr1^tm1.1Jlab	B6.129S4-Flvcr1^tm1.1Jlab	MGI:3807531
hm2	Flvcr1^tm1.1Jlab/Flvcr1^tm1.1Jlab	involves: 129S4/SvJae * C57BL/6 * DBA/2	MGI:3807528
ht3	Flvcr1^tm1.1Jlab/Flvcr1^+	involves: 129S4/SvJae * C57BL/6 * DBA/2	MGI:3807527

Genotype
MGI:3807531

hm1

• Allelic Composition: Flvcr1^tm1.1Jlab/Flvcr1^tm1.1Jlab
• Genetic Background: B6.129S4-Flvcr1^tm1.1Jlab

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:132057 )

• Background Sensitivity: dead but morphologically identifiable homozygous embryos are found E12.5, while on a mixed background, mutants surviving past E7.5 are alive and indistinguishable from littermates at E12.5

limbs/digits/tail

abnormal limb development ( J:132057 )

• Background Sensitivity: limbs are abnormal but this phenotype is less apparent than on a mixed background and when death occurs prior to E14.5

craniofacial

abnormal craniofacial morphology ( J:132057 )

• Background Sensitivity: defects are observed but are less apparent than on mixed background and when death occurs prior to E14.5

Genotype
MGI:3807528

hm2

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

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

Genotype
MGI:3807527

ht3

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

normal phenotype

no abnormal phenotype detected ( J:132057 )

• indistinguishable from controls