Phenotypes Associated with This Genotype

Genotype
MGI:3050786

• Allelic Composition: Msx1^tm1Rilm/Msx1^tm1Rilm; Msx2^tm1Rilm/Msx2^tm1Rilm
• Genetic Background: involves: 129S4/SvJae * BALB/c * CD-1

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

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:139946 )

• only sparse mesenchymal cells expression alpha-SMA are found in atrioventricular cushions indicating a defect in EMT

abnormal atrioventricular cushion morphology ( J:139946 )

• deformed at E14.5 and E16.5

atrioventricular cushion hypoplasia ( J:139946 )

atrial septal defect ( J:139946 )

• at E14.5 and E16.5

abnormal heart valve morphology ( J:139946 )

• deformed valves at E14.5 and E16.5

• shorter but thicker valves indicating a failure of valve outgrowth and remodeling

craniofacial

abnormal neurocranium morphology ( J:61509 )

• double mutant embryos that survive until late gestation display no calvarial ossification; in contrast, the chondrocranium is preserved

arrest of tooth development ( J:61509 )

• in double homozygotes, tooth development arrests at the lamina or early bud stages, i.e. earlier than the bud stage arrest observed in Msx1^tm1Rilm mutants

endocrine/exocrine glands

abnormal mammary gland development ( J:61509 )

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

skeleton

abnormal neurocranium morphology ( J:61509 )

• double mutant embryos that survive until late gestation display no calvarial ossification; in contrast, the chondrocranium is preserved

arrest of tooth development ( J:61509 )

• in double homozygotes, tooth development arrests at the lamina or early bud stages, i.e. earlier than the bud stage arrest observed in Msx1^tm1Rilm mutants

integument

abnormal mammary gland development ( J:61509 )

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

decreased hair follicle number ( J:61509 )

• 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

arrest of tooth development ( J:61509 )

• in double homozygotes, tooth development arrests at the lamina or early bud stages, i.e. earlier than the bud stage arrest observed in Msx1^tm1Rilm mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tooth agenesis		DOID:0050591	OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600	J:61509