Phenotypes associated with this allele

• Allele Symbol: Sf3b1^tm1Hko
• Allele Name: targeted mutation 1, Haruhiko Koseki
• Allele ID: MGI:3574428
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sf3b1^tm1Hko/Sf3b1^tm1Hko	B6.Cg-Sf3b1^tm1Hko	MGI:3574648
ht2	Sf3b1^tm1Hko/Sf3b1^+	B6.Cg-Sf3b1^tm1Hko	MGI:3574649
ht3	Sf3b1^tm1Hko/Sf3b1^+	Not Specified	MGI:7279138
cx4	Kmt2a^tm1Tok/Kmt2a^+ Sf3b1^tm1Hko/Sf3b1^+	involves: C57BL/6	MGI:3574650
cx5	Pcgf2^tm1Hko/Pcgf2^+ Sf3b1^tm1Hko/Sf3b1^+	involves: C57BL/6	MGI:3574652

Genotype
MGI:3574648

hm1

• Allelic Composition: Sf3b1^tm1Hko/Sf3b1^tm1Hko
• Genetic Background: B6.Cg-Sf3b1^tm1Hko

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:96358 )

• homozygous null embryos died during preimplantation around the 16- to 32-cell stage

Genotype
MGI:3574649

ht2

• Allelic Composition: Sf3b1^tm1Hko/Sf3b1⁺
• Genetic Background: B6.Cg-Sf3b1^tm1Hko

skeleton

thoracic vertebral transformation ( J:96358 )

• 29% of heterozygotes had a prominent spinous process, characteristic for the second thoracic vertebra (T2), incorrectly associated with T1, suggesting a T1 to T2 transformation

• 6% of heterozygotes had only 12 ribs, indicating T13 to L1 transformation

cervical vertebral transformation ( J:96358 )

• 27% of heterozygotes had the seventh cervical vertebra (C7) with incomplete ectopic ribs, either unilaterally or bilaterally fused with the first thoracic rib, indicating transformations of C7 toward the first thoracic vertebra (T1)

lumbar vertebral transformation ( J:96358 )

• 88% had five lumbar vertebrae, indicating an L6 to S1 transformation

Genotype
MGI:7279138

ht3

• Allelic Composition: Sf3b1^tm1Hko/Sf3b1⁺
• Genetic Background: Not Specified

behavior/neurological

hypoactivity ( J:324276 )

• some mice start to show a decline in overall activity after 12 months of age, showing reduced movements and difficulty walking

hematopoietic system

extramedullary hematopoiesis ( J:324276 )

• extramedullary hematopoiesis in the spleen, with hematopoietic elements, increased megakaryocytes with hyperchromatic nuclei, increased hemosiderin deposits and signs of fibrosis

• however, no hepatomegaly or microscopic abnormalities in the liver are seen

macrocytic anemia ( J:324276 )

abnormal bone marrow cell morphology/development ( J:324276 )

• bone marrow cells show dyserythropoietic features including nuclear budding or nuclear irregularity

• occasionally ring sideroblasts are seen in the bone marrow

decreased erythrocyte cell number ( J:324276 )

• mice tend to have lower red blood cell levels at 6, 8, 9, 11, and 12 months but statistically significant difference is seen at 11 and 12 months

decreased hemoglobin content ( J:324276 )

• mice tend to have lower hemoglobin levels at 6, 8, 9, 11, and 12 months but statistically significant difference is seen at 11 months

increased mean corpuscular volume ( J:324276 )

• mice exhibit higher mean corpuscular volume at 6 to 12 months of age, indicating macrocytic anemia

thrombocytosis ( J:324276 )

• platelet counts increase at 6 months until 12 months of age with a significant difference at 10 months

increased spleen red pulp amount ( J:324276 )

• spleen shows expansion of the red pulp

immune system

increased spleen red pulp amount ( J:324276 )

• spleen shows expansion of the red pulp

reproductive system

reduced fertility ( J:324276 )

• fertility of breeding pairs drops dramatically after 6 months of age and no progeny is produced by mice of this age or older

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:324276

Genotype
MGI:3574650

cx4

• Allelic Composition: Kmt2a^tm1Tok/Kmt2a⁺; Sf3b1^tm1Hko/Sf3b1⁺
• Genetic Background: involves: C57BL/6

skeleton

skeleton phenotype ( J:96358 )

N • posterior vertebral transformations at the cervico-thoracic transitional zone caused by the Sf3b1 mutation were completely restored in double heterozygous mice

Genotype
MGI:3574652

cx5

• Allelic Composition: Pcgf2^tm1Hko/Pcgf2⁺; Sf3b1^tm1Hko/Sf3b1⁺
• Genetic Background: involves: C57BL/6

skeleton

abnormal sternocostal joint morphology ( J:96358 )

• the detachment of the ribs of T7 from the sternum, representing an anterior shift of the sternum of one segment width

vertebral transformation ( J:96358 )

thoracic vertebral transformation ( J:96358 )

• 75% exhibit T1 to T2 transformation

• 50% exhibit T13 to L1 transformation

cervical vertebral transformation ( J:96358 )

• 45% exhibit C7 to T1 transformation, and showed ectopic ribs associated with C7 mimicking perfect ribs and forming joints with the anteriorly shifted sternum

lumbar vertebral transformation ( J:96358 )

• 100% exhibit an L6 to S1 transformation

abnormal sternum ossification ( J:96358 )

• the formation of an additional ossification center in the sternum