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Phenotypes Associated with This Genotype
Genotype
MGI:3050786
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Msx2tm1Rilm/Msx2tm1Rilm
Genetic
Background
involves: 129S4/SvJae * BALB/c * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (10 available)
Msx2tm1Rilm mutation (1 available); any Msx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• only sparse mesenchymal cells expression alpha-SMA are found in atrioventricular cushions indicating a defect in EMT
• deformed at E14.5 and E16.5
• at E14.5 and E16.5
• deformed valves at E14.5 and E16.5
• shorter but thicker valves indicating a failure of valve outgrowth and remodeling

craniofacial
• double mutant embryos that survive until late gestation display no calvarial ossification; in contrast, the chondrocranium is preserved
• in double homozygotes, tooth development arrests at the lamina or early bud stages, i.e. earlier than the bud stage arrest observed in Msx1tm1Rilm mutants

endocrine/exocrine glands
• all male and female double homozygotes show a failure of mammary epithelial invagination, resulting in subsequent regression

skeleton
• double mutant embryos that survive until late gestation display no calvarial ossification; in contrast, the chondrocranium is preserved
• in double homozygotes, tooth development arrests at the lamina or early bud stages, i.e. earlier than the bud stage arrest observed in Msx1tm1Rilm mutants

integument
• all male and female double homozygotes show a failure of mammary epithelial invagination, resulting in subsequent regression
• at E18.5, the number of hair follicles in double-mutant dorsal back skin is reduced to ~1/3 that of wild-type

growth/size/body
• in double homozygotes, tooth development arrests at the lamina or early bud stages, i.e. earlier than the bud stage arrest observed in Msx1tm1Rilm mutants

Mouse Models of Human Disease
OMIM ID Ref(s)
Tooth Agenesis, Selective, 1; STHAG1 106600 J:61509


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory