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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sp8tm1Aman
targeted mutation 1, Ahmed Mansouri
MGI:2684137
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sp8tm1Aman/Sp8tm1Aman involves: 129/Sv * NMRI MGI:2684145
ht2
Sp8tm1Aman/Sp8+ involves: 129/Sv * NMRI MGI:2684146


Genotype
MGI:2684145
hm1
Allelic
Composition
Sp8tm1Aman/Sp8tm1Aman
Genetic
Background
involves: 129/Sv * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sp8tm1Aman mutation (0 available); any Sp8 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes develop to term but die during birth or shortly thereafter

limbs/digits/tail
• at E17.5, mutant embryos display variable reductions of their forelimbs
• in most cases, a malformed humerus is present at E17.5
• at E17.5, mutant embryos display variable reductions of their hindlimbs
• in most cases, a malformed femur is present at E17.5
• mutant embryos fail to maintain gene activities initiated by FGF and Wnt signaling required for proximodistal limb outgrowth
• in most cases, the humerus and femur are generated but malformed, whereas the more distal parts of the limbs are variably affected
• initial generation of the AER by Wnt3 remains affected; however, expression of Fgfs and limb patterning genes is significantly altered, resulting in impaired AER maintenance and defective limb outgrowth
• at E10.5, mutant embryos exhibit apoptotic cell death in the mesenchyme and ectoderm of the forelimb bud, as revealed by TUNEL staining; little or no apoptosis is noted in the control forelimb bud
• at E17.5, mutant embryos display variable truncations of both fore- and hindlimbs

embryo
• mutant embryos display severe truncations of the posterior axial skeleton
• initial generation of the AER by Wnt3 remains affected; however, expression of Fgfs and limb patterning genes is significantly altered, resulting in impaired AER maintenance and defective limb outgrowth
• at E10.5, mutant embryos exhibit apoptotic cell death in the mesenchyme and ectoderm of the forelimb bud, as revealed by TUNEL staining; little or no apoptosis is noted in the control forelimb bud

nervous system
• mutant embryos display an acerebellar hindbrain
• mutant embryos exhibit exencephaly at the forebrain level

skeleton
• in most cases, a malformed humerus is present at E17.5
• in most cases, a malformed femur is present at E17.5

respiratory system
• mutant embryos show absence of nasal structures

craniofacial
• mutant embryos show absence of palate structures
• mutant embryos show absence of nasal structures

digestive/alimentary system
• mutant embryos show absence of palate structures

growth/size/body
• mutant embryos show absence of palate structures
• mutant embryos show absence of nasal structures




Genotype
MGI:2684146
ht2
Allelic
Composition
Sp8tm1Aman/Sp8+
Genetic
Background
involves: 129/Sv * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sp8tm1Aman mutation (0 available); any Sp8 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• approximately one-third of heterozygotes exhibit impaired posterior vertebra development
• approximately one-third of heterozygotes display a slight kink at the tip of the tail

skeleton
• approximately one-third of heterozygotes exhibit impaired posterior vertebra development





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
12/10/2024
MGI 6.24
The Jackson Laboratory