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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sp1tm1Phi
targeted mutation 1, Sjaak Philipsen
MGI:2181866
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sp1tm1Phi/Sp1tm1Phi involves: 129P2/OlaHsd MGI:3029023
ht2
Sp1tm1Phi/Sp1+ involves: 129P2/OlaHsd * C57BL/6 MGI:3809035
cx3
Sp1tm1Phi/Sp1+
Sp3tm1Sus/Sp3+
involves: 129P2/OlaHsd * C57BL/6 MGI:3809034


Genotype
MGI:3029023
hm1
Allelic
Composition
Sp1tm1Phi/Sp1tm1Phi
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sp1tm1Phi mutation (1 available); any Sp1 mutation (252 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• embryos appear smaller than controls
• variable phenotype; some embryos develop recognizable structures such as somites, eyes and heart, but others exhibit no discernable structures and appear as an undifferentiated mass; no embryos exhibit normal gross morphology

growth/size/body
• embryos appear smaller than controls




Genotype
MGI:3809035
ht2
Allelic
Composition
Sp1tm1Phi/Sp1+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sp1tm1Phi mutation (1 available); any Sp1 mutation (252 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• heterozygotes are viable and fertile, though slightly smaller than wild-type mice

vision/eye
• newborn heterozygotes are sometimes missing one or both eyes

hematopoietic system
• at E14.5, the frequency of erythroid BFU-E precursors, but not CFU-Es, is reduced in heterozygous fetal liver cultures relative to wild-type cultures
• in addition, the frequency of megakaryocyte progenitors (CFU-MKs) is reduced by 2-fold in heterozygous fetal liver cultures relative to wild-type cultures
• however, neither a reduction of enucleated red blood cells nor an increased number of nucleated primitive erythrocytes is noted in vivo at E16.5




Genotype
MGI:3809034
cx3
Allelic
Composition
Sp1tm1Phi/Sp1+
Sp3tm1Sus/Sp3+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sp1tm1Phi mutation (1 available); any Sp1 mutation (252 available)
Sp3tm1Sus mutation (1 available); any Sp3 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no double heterozygotes are obtained at weaning
• most double heterozygous embryos die between E16.5 and E18.5
• at E18.5, 20% of embryos are doubly heterozygous, but only one-third of them (6.7%) are alive and appear similar to Sp3tm1Sus homozygous mutants
• at E18.5, dead embryos exhibit a swollen body shape and a diffuse pink color (41.7%), or different stages of resorption (25%)

respiratory system
• at E18.5, the overall tissue structure of mutant lung tissue is more compact than that of wild-type lung tissue

skeleton
• at E18.5, various cranial bones are malformed
• unlike Sp3tm1Sus homozygotes, double heterozygotes do not display a delay in the formation of the ameloblast layer of developing teeth at E18.5
• at E18.5, forelimb phalanges are malformed
• at E18.5, ossification in the main skull bones is incomplete and ossification centers of the paws are reduced

craniofacial
• at E18.5, various cranial bones are malformed
• unlike Sp3tm1Sus homozygotes, double heterozygotes do not display a delay in the formation of the ameloblast layer of developing teeth at E18.5

limbs/digits/tail
• at E18.5, forelimb phalanges are malformed

vision/eye
• at E18.5, several viable embryos are missing one or both eyes

growth/size/body
• viable double heterozygous embryos are smaller than wild-type embryos
• at E14.5, mutant body weight is only slightly reduced, but at E16.5 it is reduced to 67% of wild-type weight
• at these stages, the relative weight of mutant fetal livers and placentas, but not of other organs, is significantly reduced

hematopoietic system
• at E16.5, blood smears of peripheral blood indicate that up to 34% of mutant erythrocytes are nucleated (primitive, yolk sac-derived) relative to only about 1% in wild-type blood
• defects in erythroid development are already present at earlier stages
• at E16.5, a 4-fold reduction of enucleated red blood cells indicates anemia
• anemia is associated with impaired maturation of erythrocytes
• at E14.5, the frequency of erythroid BFU-E and CFU-E precursors as well as megakaryocyte CFU-MK precursors is markedly reduced in mutant fetal liver cultures

homeostasis/metabolism
• at E18.5, viable double heterozygotes show characteristic blood-filled distensions (edemas) on their back
• at E14.5 and E16.5, ~50% of double heterozygous embryos develop edemas along their back

liver/biliary system
• at E16.5, mutant fetal liver sinusoids are virtually empty and erythrocytes are only found in the blood vessels
• mutant fetal livers are barely visible (E16.5) or smaller (E14.5) than the wild-type livers
• at E14.5 and E16.5, the relative weight of mutant fetal livers is significantly reduced

embryo
• at E14.5 and E16.5, 75% of mutant placentae show a striking reversal of the curvature
• at E16.5, spongiotrophoblast cells are reduced
• at E14.5 and E16.5, the size of the spongiotrophoblast layer is visibly decreased
• at E16.5, trophoblast cell type marker analyses indicate that the spongiotrophoblast layer is thinner and abnormally shaped in 100% of mutant placentae
• at E16.5, trophoblast glycogen cells are reduced
• at E16.5, maternal blood spaces are enlarged and disorganized
• at E14.4, large portions of the labyrinth layer appear disorganized
• at E16.5, three of 4 labyrinth layers appear highly disorganized, showing clustered streaks with small nucleated cells
• although disorganized, fetal endothelial cells, pericytes, and sinusoidal trophoblast giant cells are all present
• at E14.5 and E16.5, the relative weight of mutant placentas is only ~60% of wild-type placentas

cardiovascular system
• at E16.5, mutant fetal liver sinusoids are virtually empty and erythrocytes are only found in the blood vessels
• at E16.5, blood volume is significantly decreased

integument
• at E18.5, viable double heterozygotes show characteristic blood-filled distensions (edemas) on their back
• at E14.5 and E16.5, ~50% of double heterozygous embryos develop edemas along their back
• at E14.5 amd E16.5, double heterozygotes display a pale body color





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory