Phenotypes associated with this allele

• Allele Symbol: Rr320^tm2Mkg
• Allele Name: targeted mutation 2, Mark Groudine
• Allele ID: MGI:2445411
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rr320^tm2Mkg/Rr320^tm2Mkg	involves: 129S4/SvJaeSor	MGI:2651679
ht2	Rr320^tm2Mkg/Rr320^+	involves: 129S4/SvJaeSor	MGI:2673929

Genotype
MGI:2651679

hm1

• Allelic Composition: Rr320^tm2Mkg/Rr320^tm2Mkg
• Genetic Background: involves: 129S4/SvJaeSor

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:28981 )

• death between E10.5 and E13.5

• death before development of appreciable numbers of erythrocytes appear

embryo

embryonic growth retardation ( J:28981 )

hematopoietic system

abnormal erythropoiesis ( J:28981 )

• few erythroid cells at E12.5

• any erythrocytes found at E12.5 are immature

• poor hemoglobulin content of erythrocytes at E12.5

anemia ( J:28981 )

anisopoikilocytosis ( J:28981 )

• evident at E12.5

cardiovascular system

enlarged heart ( J:28981 )

growth/size/body

enlarged heart ( J:28981 )

embryonic growth retardation ( J:28981 )

integument

pallor ( J:28981 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
beta thalassemia		DOID:12241	OMIM:613985	J:28981

Genotype
MGI:2673929

ht2

• Allelic Composition: Rr320^tm2Mkg/Rr320⁺
• Genetic Background: involves: 129S4/SvJaeSor

hematopoietic system

anisopoikilocytosis ( J:28981 )

• anisopoikilocytosis, but otherwise normal RBCs