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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Diaph1tm1Asal
targeted mutation 1, Arthur S Alberts
MGI:3722153
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Diaph1tm1Asal/Diaph1tm1Asal involves: 129S1/Sv * C57BL/6 MGI:3722685
ht2
Diaph1tm1Asal/Diaph1+ involves: 129S1/Sv * C57BL/6 MGI:3722686


Genotype
MGI:3722685
hm1
Allelic
Composition
Diaph1tm1Asal/Diaph1tm1Asal
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Diaph1tm1Asal mutation (1 available); any Diaph1 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• at day 450, blood smears of some mice display numerous immature myeloid progenitor cells in clumps and with a high nucleus to cytoplasm ratio
• the erythroid precursor compartment in the spleen and marrow is increased at day 450, 4- to 6-fold more splenic erythroid precursors remain in S phase
• in 5% of mice blood smears are fibrotic
• extramedullary hematopoiesis occurs in the spleen, liver and lungs via aggregates of plasma cells
• mice are anemic with pale ears and feet
• at day 400, erythroid progenitor cells contain abnormal mitotic figures, abnormally high nucleus-to-cytoplasm ratios, and increased levels of monocytes and ring granulocytes
• in 5% of mice blood smears are fibrotic
• at day 400, the bone marrow is hypercellular
• at day 450, some mice display dysplastic erythrocytes characterized by echinocytosis
• at day 450, mice suffer from lymphopenia
• at day 450, white blood cell counts are elevated
• at day 100, granolycyte number is increased
• at day 400, the bone marrow contains increased numbers of ring granulocytes
• at day 400, the bone marrow contains increased levels of monocytes
• at day 100, spleen dysplasia is apparent
• congestion and necrosis are observed in the spleen
• at 450 days
• mice lack or have malformed germinal centers
• at day 100, hemosidirin levels are elevated and there is marked congestion, necrosis and extramedullary hematopoiesis via aggregates of plasma cells

skeleton

homeostasis/metabolism
• mice show signs of dehydration

craniofacial

growth/size/body
• mice fail to thrive between 200 and 450 days
• at 450 days

immune system
• at day 450, mice suffer from lymphopenia
• at day 450, white blood cell counts are elevated
• at day 100, granolycyte number is increased
• at day 400, the bone marrow contains increased numbers of ring granulocytes
• at day 400, the bone marrow contains increased levels of monocytes
• at day 100, spleen dysplasia is apparent
• congestion and necrosis are observed in the spleen
• at 450 days
• mice lack or have malformed germinal centers
• at day 100, hemosidirin levels are elevated and there is marked congestion, necrosis and extramedullary hematopoiesis via aggregates of plasma cells
• authors state that mice display similar lymph node defects as those seen in the spleen
• mice exhibit granulated dermatitis and inflammation on paws

integument
• mice exhibit granulated dermatitis and inflammation on paws
• after 300 days, some mice develop alopecia
• one female exhibited alopecia on muzzle from excessive barbering
• one female exhibited dermatoses along crest from excessive barbering
• after 300 days, 30% to 40% of mice develop dermatoses




Genotype
MGI:3722686
ht2
Allelic
Composition
Diaph1tm1Asal/Diaph1+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Diaph1tm1Asal mutation (1 available); any Diaph1 mutation (116 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• at day 450, 2- to 4-fold more splenic erythroid precursors remain in S phase
• at day 400, erythroid progenitor cells contain abnormal mitotic figures, abnormally high nucleus-to-cytoplasm ratios, and increased levels of monocytes and ring granulocytes
• at day 400, the bone marrow is hypercellular





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory