Phenotypes associated with this allele

• Allele Symbol: Dmtn^tm1Ahc
• Allele Name: targeted mutation 1, Athar H Chishti
• Allele ID: MGI:2447353
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dmtn^tm1Ahc/Dmtn^tm1Ahc	involves: 129S4/SvJaeSor * C57BL/6J	MGI:2449950

Genotype
MGI:2449950

hm1

• Allelic Composition: Dmtn^tm1Ahc/Dmtn^tm1Ahc
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

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

hematopoietic system

anemia ( J:76575 )

• homozygotes are mildly anemic

decreased hematocrit ( J:76575 )

• adult homozygotes have significantly reduced hematocrits

decreased mean corpuscular volume ( J:76575 )

• mutant erythrocytes show a significant reduction in mean corpuscular volume

microcytosis ( J:76575 )

• homozygotes display mild microcytosis with vesicular material budding off the surface RBC membrane

spherocytosis ( J:76575 )

• homozygotes exhibit mild spherocytosis

reticulocytosis ( J:76575 )

• adult homozygotes display increased reticulocyte counts

increased erythrocyte osmotic fragility ( J:76575 )

• mutant erythrocytes are osmotically fragile with a greater propensity for hemolysis under hypotonic conditions

• mutant erythrocytes show reduced deformability and filterability and a greater propensity of membrane fragmentation of resealed erythrocyte membranes under stress, indicating a mechanically unstable plasma membrane

• selective loss of spectrin and actin from RBC membrane skeletons and vesicles occurs without any changes in other major proteins or loss of the dimer-tetramer equilibrium of spectrin