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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Msx1tm1Rilm
targeted mutation 1, Richard Maas
MGI:1926386
Summary 14 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Msx1tm1Rilm/Msx1tm1Rilm either: (involves: 129S4/SvJae-Msx1tm1Rilm) or (involves: 129S4/SvJae * BALB/c) or (involves: 129X1/SvJae * C57BL/6J) MGI:2175120
hm2
Msx1tm1Rilm/Msx1tm1Rilm involves: 129S4/SvJae MGI:3839560
hm3
Msx1tm1Rilm/Msx1tm1Rilm involves: 129S4/SvJae * BALB/c * CD-1 MGI:5649267
hm4
Msx1tm1Rilm/Msx1tm1Rilm involves: 129S4/SvJae * CD-1 MGI:2383962
cn5
Isl1tm1(cre)Sev/Isl1+
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1.1Hpt
involves: 129 * CD-1 MGI:7294564
cx6
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9+
involves: 129 * CD-1 MGI:7294561
cx7
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9tm1Rbal
involves: 129 * CD-1 MGI:7294558
cx8
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1Rbal
involves: 129 * CD-1 MGI:7294559
cx9
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9+
involves: 129 * CD-1 MGI:7294560
cx10
Gsctm1Pgr/Gsctm1Pgr
Msx1tm1Rilm/Msx1tm1Rilm
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ MGI:3839559
cx11
Msx1tm1Rilm/Msx1tm1Rilm
Msx2tm1Rilm/Msx2tm1Rilm
involves: 129S4/SvJae * BALB/c * CD-1 MGI:3050786
cx12
Msx1tm1Rilm/Msx1tm1Rilm
Msx2tm1Rilm/Msx2tm1Rilm
involves: 129S4/SvJae * CD-1 MGI:5528466
cx13
Msx1tm1Rilm/Msx1tm1Rilm
Msx2tm1Rilm/Msx2+
involves: 129S4/SvJae * CD-1 MGI:3050865
cx14
Msx1tm1Rilm/Msx1+
Msx2tm1Rilm/Msx2tm1Rilm
involves: 129S4/SvJae * CD-1 MGI:3050863


Genotype
MGI:2175120
hm1
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Genetic
Background
either: (involves: 129S4/SvJae-Msx1tm1Rilm) or (involves: 129S4/SvJae * BALB/c) or (involves: 129X1/SvJae * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all die within 24 hours of birth

craniofacial
• skull is rounded in appearance
• enlargement of the sutural (Wormian) bone in the frontal (metopic) suture
• results from the absence of medial portions of the frontal bones
• frontal bone is more rounded and medial portions are absent resulting in an enlarged anterior fontanelle
• display a small region of overlapping parietal bones
• the alveolar processes of the maxilla and the mandible are absent
• the incisor tooth buds in the mandible are absent
• the upper incisors of the maxilla are absent
• first and second molar teeth are profoundly retarded at the tooth bud stage
• exhibit foreshortening of the distal tooth-bearing mandible and an abnormal lower border and anterior segment, including the symphysis menti
• mandible is reduced in length by 5%
• nasal bones are smaller and more rectangular
• malleus is reduced in height
• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum
• complete cleft of the secondary palate

hearing/vestibular/ear
• malleus is reduced in height

homeostasis/metabolism
• newborns become cyanotic prior to death

respiratory system
• nasal bones are smaller and more rectangular
• newborns exhibit gasping respirations prior to death

behavior/neurological
• stomachs are devoid or milk and are distended with air

skeleton
• skull is rounded in appearance
• enlargement of the sutural (Wormian) bone in the frontal (metopic) suture
• results from the absence of medial portions of the frontal bones
• frontal bone is more rounded and medial portions are absent resulting in an enlarged anterior fontanelle
• display a small region of overlapping parietal bones
• the alveolar processes of the maxilla and the mandible are absent
• the incisor tooth buds in the mandible are absent
• the upper incisors of the maxilla are absent
• first and second molar teeth are profoundly retarded at the tooth bud stage
• exhibit foreshortening of the distal tooth-bearing mandible and an abnormal lower border and anterior segment, including the symphysis menti
• mandible is reduced in length by 5%
• nasal bones are smaller and more rectangular
• malleus is reduced in height

digestive/alimentary system
• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum
• complete cleft of the secondary palate

growth/size/body
• the alveolar processes of the maxilla and the mandible are absent
• the incisor tooth buds in the mandible are absent
• the upper incisors of the maxilla are absent
• first and second molar teeth are profoundly retarded at the tooth bud stage
• nasal bones are smaller and more rectangular
• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum
• complete cleft of the secondary palate




Genotype
MGI:3839560
hm2
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• malleus lacks the short process

hearing/vestibular/ear
• malleus lacks the short process
• the dorsal edge of the tympanic cavity does not develop a clear epitympanic pocket as in wild-type mice

skeleton
• malleus lacks the short process




Genotype
MGI:5649267
hm3
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
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 (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
N
• defects in atrioventricular cushions and valves are not seen unlike in mice homozygous for this allele and Msx2tm1Rilm




Genotype
MGI:2383962
hm4
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial

digestive/alimentary system

growth/size/body




Genotype
MGI:7294564
cn5
Allelic
Composition
Isl1tm1(cre)Sev/Isl1+
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1.1Hpt
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (33 available)
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1.1Hpt mutation (0 available); any Pax9 mutation (16 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• ossification center is shorter
• angle between the greater and lesser horns is reduced

craniofacial
• unlike in germline null mice, cleft palate is not seen
• ossification center is shorter
• angle between the greater and lesser horns is reduced

limbs/digits/tail

cardiovascular system
• cervical origin in 2 of 8 neonates

respiratory system




Genotype
MGI:7294561
cx6
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9+
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial

digestive/alimentary system

growth/size/body




Genotype
MGI:7294558
cx7
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9tm1Rbal
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• similar to mice homozygous for Pax9 alone
• two embryos have IAA-B and A-RSA
• two embryos have IAA-B and A-RSA
• only seen in a single mouse

limbs/digits/tail
N
• unlike mice homozygous for Pax9 mutation alone, pre-axial polydactyly is not seen

craniofacial
• similar to mice homozygous for Pax9 alone

embryo
• similar to mice homozygous for Pax9 alone




Genotype
MGI:7294559
cx8
Allelic
Composition
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1Rbal
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

digestive/alimentary system

nervous system
• decrease in the number of neural crest cells in the 4th pharyngeal arches at E10.5

cardiovascular system
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5
• at E10.5
• decrease in the number of neural crest cells at E10.5
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5
• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced
• at E9.5 but not at E10.5
• cervical origin of the aorta is increased compared to homozygous mice wild-type for Msx1
• significant reduction in retro-esophageal right subclavian artery and a significant increase in cervical origin compared to homozygous mice wild-type for Msx1
• significant reduction in the incidence of IAA-B compared to homozygous mice wild-type for Msx1
• reduction in the incidence of absent common carotid arteries compared to homozygous mice wild-type for Msx1 (24% compared to 57%)
• only seen in a single mouse

endocrine/exocrine glands
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

craniofacial
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5
• at E10.5
• decrease in the number of neural crest cells at E10.5
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5
• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced
• at E9.5 but not at E10.5

embryo
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5
• at E10.5
• decrease in the number of neural crest cells at E10.5
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5
• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced
• at E9.5 but not at E10.5
• decrease in the number of neural crest cells in the 4th pharyngeal arches at E10.5

growth/size/body

hematopoietic system
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

immune system
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

limbs/digits/tail




Genotype
MGI:7294560
cx9
Allelic
Composition
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9+
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• absence of lower teeth

growth/size/body
• absence of lower teeth

skeleton
• absence of lower teeth




Genotype
MGI:3839559
cx10
Allelic
Composition
Gsctm1Pgr/Gsctm1Pgr
Msx1tm1Rilm/Msx1tm1Rilm
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gsctm1Pgr mutation (2 available); any Gsc mutation (15 available)
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• the malleus lacks the short process

digestive/alimentary system

hearing/vestibular/ear
• the malleus lacks the short process
• the tympanic cavity is greatly reduced compared to in wild-type mice or either single homozygote
• the tympanic bone develops as a short bar unlike in wild-type mice

skeleton
• the malleus lacks the short process

growth/size/body




Genotype
MGI:3050786
cx11
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 (18 available)
Msx2tm1Rilm mutation (1 available); any Msx2 mutation (23 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




Genotype
MGI:5528466
cx12
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Msx2tm1Rilm/Msx2tm1Rilm
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Msx2tm1Rilm mutation (1 available); any Msx2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• at E14.5, the Meckel's cartilage displays a curvature at the caudal end
• at E14.5, the body of the malleus is reduced and remains attached to a malformed Meckel's cartilage
• at E14.5, the malleal manubrium is absent
• at E14.5, the malleal processus brevis is absent
• at E14.5, the body of the malleus is smaller than normal
• double homozygotes show a stronger hypomorphism of the malleus relative to single Msx1tm1Rilm mutants
• at E14.5 and E15.5, double homozygotes lack an external acoustic meatus opening

hearing/vestibular/ear
• at E14.5, the body of the malleus is reduced and remains attached to a malformed Meckel's cartilage
• at E14.5, the malleal manubrium is absent
• at E14.5, the malleal processus brevis is absent
• at E14.5, the body of the malleus is smaller than normal
• double homozygotes show a stronger hypomorphism of the malleus relative to single Msx1tm1Rilm mutants
• at E14.5 and E15.5, double homozygotes lack an external acoustic meatus opening
• at E14.5 and E15.5, the tympanic ring is not found

skeleton
• at E14.5, the Meckel's cartilage displays a curvature at the caudal end
• at E14.5, the body of the malleus is reduced and remains attached to a malformed Meckel's cartilage
• at E14.5, the malleal manubrium is absent
• at E14.5, the malleal processus brevis is absent
• at E14.5, the body of the malleus is smaller than normal
• double homozygotes show a stronger hypomorphism of the malleus relative to single Msx1tm1Rilm mutants

growth/size/body
• at E14.5 and E15.5, double homozygotes lack an external acoustic meatus opening




Genotype
MGI:3050865
cx13
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Msx2tm1Rilm/Msx2+
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Msx2tm1Rilm mutation (1 available); any Msx2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• compound mutants display formation of the malleal manubrium




Genotype
MGI:3050863
cx14
Allelic
Composition
Msx1tm1Rilm/Msx1+
Msx2tm1Rilm/Msx2tm1Rilm
Genetic
Background
involves: 129S4/SvJae * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Msx2tm1Rilm mutation (1 available); any Msx2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
N
• compound mutants display normal development of the malleus in the middle ear





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory