Phenotypes associated with this allele

• Allele Symbol: Runx1^tm1Sata
• Allele Name: targeted mutation 1, Masanobu Satake
• Allele ID: MGI:1934197
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Runx1^tm1Sata/Runx1^tm1Sata	involves: 129S4/SvJae * C57BL/6J	MGI:2667152
cx2	Runx1^tm1Sata/Runx1^tm1Sata Tg(Rr438-Runx1)#Mym/0	involves: 129S4/SvJae * C57BL/6 * DBA/2	MGI:7466114

Genotype
MGI:2667152

hm1

• Allelic Composition: Runx1^tm1Sata/Runx1^tm1Sata
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:50937 )

• death at approximately E12.5

cardiovascular system

abnormal angiogenesis ( J:63424 )

• defective angiogenesis in the head

• mutants exhibit disorganized capillaries in the E10.5 brain and fewer numbers of small capillaries in the hindbrain at E11.5

• endothelial cells in E10.5 brain sprout in many directions from one capillary

• para-aortic splanchnopleural explant cultures on stromal cells show defective angiogenesis, with poor vascular network formation

• addition of hematopoietic stem cells to para-aortic splanchnopleural explant cultures rescues the defective angiogenesis, indicating that vascular defects are secondary to hematopoietic failure

abnormal vascular branching morphogenesis ( J:63424 )

• large vessels in the embryonic head contain fewer branches than in wild-type

• less branching of capillaries is seen in the vessels of the pericardium

• less branching of the vitelline artery of the yolk sac

aneurysm ( J:63424 )

internal hemorrhage ( J:63424 )

• hemorrhages in the vertebral canal and within the peritoneal cavity at E12.5

hemopericardium ( J:63424 )

intraventricular hemorrhage ( J:63424 )

hematopoietic system

abnormal definitive hematopoiesis ( J:50937 , J:63424 )

• however, primitive hematopoiesis appears normal (J:50937)

• absence of hematopoietic cells of the definitive type in the liver of E12.5 embryos (J:50937)

• para-aortic splanchnopleural explant cultures on stromal cells do not generate definitive hematopoietic cells (J:63424)

abnormal erythropoiesis ( J:63424 )

• mutant derived para-aortic splanchnopleural explant cultures on stromal cells contain no erythroid cells

embryo

abnormal vitelline vascular remodeling ( J:63424 )

• less branching of the vitelline artery of the yolk sac

nervous system

intraventricular hemorrhage ( J:63424 )

homeostasis/metabolism

hemopericardium ( J:63424 )

Genotype
MGI:7466114

cx2

• Allelic Composition: Runx1^tm1Sata/Runx1^tm1Sata; Tg(Rr438-Runx1)#Mym/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2

mortality/aging

lethality throughout fetal growth and development ( J:145189 )

• due to selective rescue of Runx1 in hematopoietic cells, mice are able to survive up to E18.5, whereas single Runx1^tm1Sata homozygotes die at ~E12.5

craniofacial

abnormal primary and secondary palatal fusion ( J:145189 )

• at E17.5, all mice exhibit partial anterior clefting at the first rugae area and between the primary and the secondary palates

abnormal palatal shelf morphology ( J:145189 )

• SEM analysis of the palatal shelves at the first rugae site showed less obvious morphological changes associated with palatal fusion, unlike in wild-type controls where the fusing epithelial surface in the anterior palate shows a rounded cobblestone-like appearance

• TEM analysis of the palatal shelf edge showed a lack of surface cell desquamation and cell blebs prior to fusion and no signs of epithelial cell disintegration or fragmentation in their nuclei, unlike in wild-type controls

abnormal palatal shelf fusion at midline ( J:145189 )

• in the first rugae region, the bilateral palatal shelves exhibit normal thickness and length and elongate to the midline with no signs of growth retardation but there is no contact in the midline, either between the palatal shelves or between the palatal shelves and the nasal septum

• however, the secondary palate is fused completely in middle and posterior regions and mesenchymal confluence is observed

anterior cleft palate ( J:145189 )

• at E17.5, all mice exhibit partial anterior clefting at the first rugae area and between the primary and the secondary palates

• anterior clefting is likely due to a failure in epithelial fusion

abnormal nasal septum morphology ( J:145189 )

• at E17.5, the secondary palate is fused completely in middle and posterior regions but fails to contact the inferior border of the nasal septum, indicating incomplete fusion between the secondary palate and the nasal septum

• however, the septal cartilage is of normal size

digestive/alimentary system

abnormal primary and secondary palatal fusion ( J:145189 )

• at E17.5, all mice exhibit partial anterior clefting at the first rugae area and between the primary and the secondary palates

abnormal palatal shelf morphology ( J:145189 )

• SEM analysis of the palatal shelves at the first rugae site showed less obvious morphological changes associated with palatal fusion, unlike in wild-type controls where the fusing epithelial surface in the anterior palate shows a rounded cobblestone-like appearance

• TEM analysis of the palatal shelf edge showed a lack of surface cell desquamation and cell blebs prior to fusion and no signs of epithelial cell disintegration or fragmentation in their nuclei, unlike in wild-type controls

abnormal palatal shelf fusion at midline ( J:145189 )

• in the first rugae region, the bilateral palatal shelves exhibit normal thickness and length and elongate to the midline with no signs of growth retardation but there is no contact in the midline, either between the palatal shelves or between the palatal shelves and the nasal septum

• however, the secondary palate is fused completely in middle and posterior regions and mesenchymal confluence is observed

anterior cleft palate ( J:145189 )

• at E17.5, all mice exhibit partial anterior clefting at the first rugae area and between the primary and the secondary palates

• anterior clefting is likely due to a failure in epithelial fusion

growth/size/body

abnormal primary and secondary palatal fusion ( J:145189 )

• at E17.5, all mice exhibit partial anterior clefting at the first rugae area and between the primary and the secondary palates

abnormal palatal shelf morphology ( J:145189 )

• SEM analysis of the palatal shelves at the first rugae site showed less obvious morphological changes associated with palatal fusion, unlike in wild-type controls where the fusing epithelial surface in the anterior palate shows a rounded cobblestone-like appearance

• TEM analysis of the palatal shelf edge showed a lack of surface cell desquamation and cell blebs prior to fusion and no signs of epithelial cell disintegration or fragmentation in their nuclei, unlike in wild-type controls

abnormal palatal shelf fusion at midline ( J:145189 )

• in the first rugae region, the bilateral palatal shelves exhibit normal thickness and length and elongate to the midline with no signs of growth retardation but there is no contact in the midline, either between the palatal shelves or between the palatal shelves and the nasal septum

• however, the secondary palate is fused completely in middle and posterior regions and mesenchymal confluence is observed

anterior cleft palate ( J:145189 )

• at E17.5, all mice exhibit partial anterior clefting at the first rugae area and between the primary and the secondary palates

• anterior clefting is likely due to a failure in epithelial fusion

abnormal nasal septum morphology ( J:145189 )

• at E17.5, the secondary palate is fused completely in middle and posterior regions but fails to contact the inferior border of the nasal septum, indicating incomplete fusion between the secondary palate and the nasal septum

• however, the septal cartilage is of normal size

respiratory system

abnormal nasal septum morphology ( J:145189 )

• at E17.5, the secondary palate is fused completely in middle and posterior regions but fails to contact the inferior border of the nasal septum, indicating incomplete fusion between the secondary palate and the nasal septum

• however, the septal cartilage is of normal size