All Phenotypes Msx1<tm1Rilm> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Msx1^tm1Rilm
targeted mutation 1, Richard Maas
MGI:1926386

Summary

14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Msx1^tm1Rilm/Msx1^tm1Rilm	either: (involves: 129S4/SvJae-Msx1^tm1Rilm) or (involves: 129S4/SvJae * BALB/c) or (involves: 129X1/SvJae * C57BL/6J)	MGI:2175120
hm2	Msx1^tm1Rilm/Msx1^tm1Rilm	involves: 129S4/SvJae	MGI:3839560
hm3	Msx1^tm1Rilm/Msx1^tm1Rilm	involves: 129S4/SvJae * BALB/c * CD-1	MGI:5649267
hm4	Msx1^tm1Rilm/Msx1^tm1Rilm	involves: 129S4/SvJae * CD-1	MGI:2383962
cn5	Isl1^tm1(cre)Sev/Isl1⁺ Msx1^tm1Rilm/Msx1⁺ Pax9^tm1Rbal/Pax9^tm1.1Hpt	involves: 129 * CD-1	MGI:7294564
cx6	Msx1^tm1Rilm/Msx1^tm1Rilm Pax9^tm1Rbal/Pax9⁺	involves: 129 * CD-1	MGI:7294561
cx7	Msx1^tm1Rilm/Msx1^tm1Rilm Pax9^tm1Rbal/Pax9^tm1Rbal	involves: 129 * CD-1	MGI:7294558
cx8	Msx1^tm1Rilm/Msx1⁺ Pax9^tm1Rbal/Pax9^tm1Rbal	involves: 129 * CD-1	MGI:7294559
cx9	Msx1^tm1Rilm/Msx1⁺ Pax9^tm1Rbal/Pax9⁺	involves: 129 * CD-1	MGI:7294560
cx10	Gsc^tm1Pgr/Gsc^tm1Pgr Msx1^tm1Rilm/Msx1^tm1Rilm	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ	MGI:3839559
cx11	Msx1^tm1Rilm/Msx1^tm1Rilm Msx2^tm1Rilm/Msx2^tm1Rilm	involves: 129S4/SvJae * BALB/c * CD-1	MGI:3050786
cx12	Msx1^tm1Rilm/Msx1^tm1Rilm Msx2^tm1Rilm/Msx2^tm1Rilm	involves: 129S4/SvJae * CD-1	MGI:5528466
cx13	Msx1^tm1Rilm/Msx1^tm1Rilm Msx2^tm1Rilm/Msx2⁺	involves: 129S4/SvJae * CD-1	MGI:3050865
cx14	Msx1^tm1Rilm/Msx1⁺ Msx2^tm1Rilm/Msx2^tm1Rilm	involves: 129S4/SvJae * CD-1	MGI:3050863

Allelic Composition	Msx1^tm1Rilm/Msx1^tm1Rilm
Genetic Background	either: (involves: 129S4/SvJae-Msx1^tm1Rilm) or (involves: 129S4/SvJae * BALB/c) or (involves: 129X1/SvJae * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:17489 )

• all die within 24 hours of birth

craniofacial

abnormal cranium morphology ( J:17489 )

• skull is rounded in appearance

abnormal metopic suture morphology ( J:17489 )

• enlargement of the sutural (Wormian) bone in the frontal (metopic) suture

large anterior fontanelle ( J:17489 )

• results from the absence of medial portions of the frontal bones

abnormal frontal bone morphology ( J:17489 )

• frontal bone is more rounded and medial portions are absent resulting in an enlarged anterior fontanelle

overlapping parietal bones ( J:17489 )

• display a small region of overlapping parietal bones

absent alveolar process ( J:17489 )

• the alveolar processes of the maxilla and the mandible are absent

abnormal tooth morphology ( J:17489 )

absent lower incisors ( J:17489 )

• the incisor tooth buds in the mandible are absent

absent upper incisors ( J:17489 )

• the upper incisors of the maxilla are absent

growth retardation of molars ( J:17489 )

• first and second molar teeth are profoundly retarded at the tooth bud stage

abnormal mandible morphology ( J:17489 )

• exhibit foreshortening of the distal tooth-bearing mandible and an abnormal lower border and anterior segment, including the symphysis menti

short mandible ( J:17489 )

• mandible is reduced in length by 5%

absent maxillary shelf ( J:17489 )

absent premaxilla ( J:17489 )

short maxilla ( J:17489 )

small nasal bone ( J:17489 )

• nasal bones are smaller and more rectangular

absent palatine bone horizontal plate ( J:17489 )

absent malleus processus brevis ( J:17489 )

short malleus ( J:17489 )

• malleus is reduced in height

abnormal palatal shelf fusion at midline ( J:17489 )

• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum

cleft secondary palate ( J:17489 )

• complete cleft of the secondary palate

hearing/vestibular/ear

absent malleus processus brevis ( J:17489 )

short malleus ( J:17489 )

• malleus is reduced in height

homeostasis/metabolism

cyanosis ( J:17489 )

• newborns become cyanotic prior to death

respiratory system

small nasal bone ( J:17489 )

• nasal bones are smaller and more rectangular

abnormal breathing pattern ( J:17489 )

• newborns exhibit gasping respirations prior to death

behavior/neurological

absent gastric milk in neonates ( J:17489 )

• stomachs are devoid or milk and are distended with air

skeleton

abnormal cranium morphology ( J:17489 )

• skull is rounded in appearance

abnormal metopic suture morphology ( J:17489 )

• enlargement of the sutural (Wormian) bone in the frontal (metopic) suture

large anterior fontanelle ( J:17489 )

• results from the absence of medial portions of the frontal bones

abnormal frontal bone morphology ( J:17489 )

• frontal bone is more rounded and medial portions are absent resulting in an enlarged anterior fontanelle

overlapping parietal bones ( J:17489 )

• display a small region of overlapping parietal bones

absent alveolar process ( J:17489 )

• the alveolar processes of the maxilla and the mandible are absent

abnormal tooth morphology ( J:17489 )

absent lower incisors ( J:17489 )

• the incisor tooth buds in the mandible are absent

absent upper incisors ( J:17489 )

• the upper incisors of the maxilla are absent

growth retardation of molars ( J:17489 )

• first and second molar teeth are profoundly retarded at the tooth bud stage

abnormal mandible morphology ( J:17489 )

• exhibit foreshortening of the distal tooth-bearing mandible and an abnormal lower border and anterior segment, including the symphysis menti

short mandible ( J:17489 )

• mandible is reduced in length by 5%

absent maxillary shelf ( J:17489 )

absent premaxilla ( J:17489 )

short maxilla ( J:17489 )

small nasal bone ( J:17489 )

• nasal bones are smaller and more rectangular

absent palatine bone horizontal plate ( J:17489 )

absent malleus processus brevis ( J:17489 )

short malleus ( J:17489 )

• malleus is reduced in height

digestive/alimentary system

absent maxillary shelf ( J:17489 )

absent palatine bone horizontal plate ( J:17489 )

abnormal palatal shelf fusion at midline ( J:17489 )

• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum

cleft secondary palate ( J:17489 )

• complete cleft of the secondary palate

growth/size/body

absent alveolar process ( J:17489 )

• the alveolar processes of the maxilla and the mandible are absent

abnormal tooth morphology ( J:17489 )

absent lower incisors ( J:17489 )

• the incisor tooth buds in the mandible are absent

absent upper incisors ( J:17489 )

• the upper incisors of the maxilla are absent

growth retardation of molars ( J:17489 )

• first and second molar teeth are profoundly retarded at the tooth bud stage

absent maxillary shelf ( J:17489 )

small nasal bone ( J:17489 )

• nasal bones are smaller and more rectangular

absent palatine bone horizontal plate ( J:17489 )

abnormal palatal shelf fusion at midline ( J:17489 )

• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum

cleft secondary palate ( J:17489 )

• complete cleft of the secondary palate

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
orofacial cleft	DOID:0050567	OMIM:PS119530	J:17489
tooth agenesis	DOID:0050591	OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600	J:17489

Allelic Composition	Msx1^tm1Rilm/Msx1^tm1Rilm
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)

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

craniofacial

absent malleus processus brevis ( J:59750 )

• malleus lacks the short process

hearing/vestibular/ear

absent malleus processus brevis ( J:59750 )

• malleus lacks the short process

abnormal epitympanic recess morphology ( J:59750 )

• the dorsal edge of the tympanic cavity does not develop a clear epitympanic pocket as in wild-type mice

skeleton

absent malleus processus brevis ( J:59750 )

• malleus lacks the short process

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)

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

cardiovascular system

cardiovascular system phenotype ( J:139946 )

N	• defects in atrioventricular cushions and valves are not seen unlike in mice homozygous for this allele and Msx2^tm1Rilm

Allelic Composition	Msx1^tm1Rilm/Msx1^tm1Rilm
Genetic Background	involves: 129S4/SvJae * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)

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

craniofacial

cleft palate ( J:311535 )

digestive/alimentary system

cleft palate ( J:311535 )

growth/size/body

cleft palate ( J:311535 )

Allelic Composition	Isl1^tm1(cre)Sev/Isl1⁺ Msx1^tm1Rilm/Msx1⁺ Pax9^tm1Rbal/Pax9^tm1.1Hpt
Genetic Background	involves: 129 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1^tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9^tm1.1Hpt mutation (0 available); any Pax9 mutation (17 available)
Pax9^tm1Rbal mutation (0 available); any Pax9 mutation (17 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:311535 )

skeleton

abnormal hyoid bone morphology ( J:311535 )

• ossification center is shorter

• angle between the greater and lesser horns is reduced

abnormal hyoid bone greater horn morphology ( J:311535 )

• reduced in length

abnormal hyoid bone lesser horn morphology ( J:311535 )

• extends laterally

abnormal inferior horn of thyroid cartilage morphology ( J:311535 )

• significantly shorter

abnormal superior horn of thyroid cartilage morphology ( J:311535 )

• reduced to a stump

craniofacial

craniofacial phenotype ( J:311535 )

• unlike in germline null mice, cleft palate is not seen

abnormal hyoid bone morphology ( J:311535 )

• ossification center is shorter

• angle between the greater and lesser horns is reduced

abnormal hyoid bone greater horn morphology ( J:311535 )

• reduced in length

abnormal hyoid bone lesser horn morphology ( J:311535 )

• extends laterally

limbs/digits/tail

preaxial polydactyly ( J:311535 )

cardiovascular system

aberrant origin of the right subclavian artery ( J:311535 )

• cervical origin in 2 of 8 neonates

respiratory system

abnormal inferior horn of thyroid cartilage morphology ( J:311535 )

• significantly shorter

abnormal superior horn of thyroid cartilage morphology ( J:311535 )

• reduced to a stump

Allelic Composition	Msx1^tm1Rilm/Msx1^tm1Rilm Pax9^tm1Rbal/Pax9⁺
Genetic Background	involves: 129 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9^tm1Rbal mutation (0 available); any Pax9 mutation (17 available)

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

craniofacial

cleft palate ( J:311535 )

digestive/alimentary system

cleft palate ( J:311535 )

growth/size/body

cleft palate ( J:311535 )

Allelic Composition	Msx1^tm1Rilm/Msx1^tm1Rilm Pax9^tm1Rbal/Pax9^tm1Rbal
Genetic Background	involves: 129 * CD-1

Find Mice

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

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:311535 )

• similar to mice homozygous for Pax9 alone

aberrant origin of the right subclavian artery ( J:311535 )

• two embryos have IAA-B and A-RSA

interrupted aortic arch, type b ( J:311535 )

• two embryos have IAA-B and A-RSA

double outlet right ventricle ( J:311535 )

• only seen in a single mouse

limbs/digits/tail

limbs/digits/tail phenotype ( J:311535 )

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

craniofacial

abnormal pharyngeal arch artery morphology ( J:311535 )

• similar to mice homozygous for Pax9 alone

embryo

abnormal pharyngeal arch artery morphology ( J:311535 )

• similar to mice homozygous for Pax9 alone

Allelic Composition	Msx1^tm1Rilm/Msx1⁺ Pax9^tm1Rbal/Pax9^tm1Rbal
Genetic Background	involves: 129 * CD-1

Find Mice

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

mortality/aging

neonatal lethality ( J:311535 )

digestive/alimentary system

cleft secondary palate ( J:311535 )

nervous system

decreased neural crest cell number ( J:311535 )

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

cardiovascular system

abnormal first pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5

fourth pharyngeal arch artery hypoplasia ( J:311535 )

• at E10.5

• decrease in the number of neural crest cells at E10.5

abnormal second pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal third pharyngeal arch artery morphology ( J:311535 )

• 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

third pharyngeal arch artery hypoplasia ( J:311535 )

• at E9.5 but not at E10.5

abnormal aorta morphology ( J:311535 )

• cervical origin of the aorta is increased compared to homozygous mice wild-type for Msx1

aberrant origin of the right subclavian artery ( J:311535 )

• significant reduction in retro-esophageal right subclavian artery and a significant increase in cervical origin compared to homozygous mice wild-type for Msx1

interrupted aortic arch ( J:311535 )

• significant reduction in the incidence of IAA-B compared to homozygous mice wild-type for Msx1

abnormal common carotid artery morphology ( J:311535 )

• reduction in the incidence of absent common carotid arteries compared to homozygous mice wild-type for Msx1 (24% compared to 57%)

double outlet right ventricle ( J:311535 )

• only seen in a single mouse

endocrine/exocrine glands

thymus hypoplasia ( J:311535 )

• severely hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• severely hypoplastic and absent from the normal position

craniofacial

abnormal first pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5

fourth pharyngeal arch artery hypoplasia ( J:311535 )

• at E10.5

• decrease in the number of neural crest cells at E10.5

abnormal second pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal third pharyngeal arch artery morphology ( J:311535 )

• 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

third pharyngeal arch artery hypoplasia ( J:311535 )

• at E9.5 but not at E10.5

cleft secondary palate ( J:311535 )

embryo

abnormal first pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:311535 )

• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5

fourth pharyngeal arch artery hypoplasia ( J:311535 )

• at E10.5

• decrease in the number of neural crest cells at E10.5

abnormal second pharyngeal arch artery morphology ( J:311535 )

• abnormally persistent at E12.5

abnormal third pharyngeal arch artery morphology ( J:311535 )

• 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

third pharyngeal arch artery hypoplasia ( J:311535 )

• at E9.5 but not at E10.5

decreased neural crest cell number ( J:311535 )

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

growth/size/body

cleft secondary palate ( J:311535 )

hematopoietic system

thymus hypoplasia ( J:311535 )

• severely hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• severely hypoplastic and absent from the normal position

immune system

thymus hypoplasia ( J:311535 )

• severely hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• severely hypoplastic and absent from the normal position

limbs/digits/tail

preaxial polydactyly ( J:311535 )

Allelic Composition	Msx1^tm1Rilm/Msx1⁺ Pax9^tm1Rbal/Pax9⁺
Genetic Background	involves: 129 * CD-1

Find Mice

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

craniofacial

decreased tooth number ( J:311535 )

• absence of lower teeth

growth/size/body

decreased tooth number ( J:311535 )

• absence of lower teeth

skeleton

decreased tooth number ( J:311535 )

• absence of lower teeth

Allelic Composition	Gsc^tm1Pgr/Gsc^tm1Pgr Msx1^tm1Rilm/Msx1^tm1Rilm
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gsc^tm1Pgr mutation (2 available); any Gsc mutation (15 available)
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)

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

craniofacial

abnormal Meckel's cartilage morphology ( J:59750 )

absent malleus processus brevis ( J:59750 )

• the malleus lacks the short process

cleft palate ( J:59750 )

absent external auditory canal ( J:59750 )

digestive/alimentary system

cleft palate ( J:59750 )

hearing/vestibular/ear

absent malleus processus brevis ( J:59750 )

• the malleus lacks the short process

absent external auditory canal ( J:59750 )

abnormal tympanic cavity morphology ( J:59750 )

• the tympanic cavity is greatly reduced compared to in wild-type mice or either single homozygote

decreased tympanic ring size ( J:59750 )

• the tympanic bone develops as a short bar unlike in wild-type mice

skeleton

abnormal Meckel's cartilage morphology ( J:59750 )

absent malleus processus brevis ( J:59750 )

• the malleus lacks the short process

growth/size/body

cleft palate ( J:59750 )

absent external auditory canal ( J:59750 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Msx2^tm1Rilm mutation (1 available); any Msx2 mutation (23 available)

♀	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

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

Find Mice

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

craniofacial

abnormal Meckel's cartilage morphology ( J:83306 )

• at E14.5, the Meckel's cartilage displays a curvature at the caudal end

abnormal middle ear ossicle morphology ( J:83306 )

abnormal malleus morphology ( J:83306 )

• at E14.5, the body of the malleus is reduced and remains attached to a malformed Meckel's cartilage

absent malleus manubrium ( J:83306 )

• at E14.5, the malleal manubrium is absent

absent malleus processus brevis ( J:83306 )

• at E14.5, the malleal processus brevis is absent

small malleus ( J:83306 )

• at E14.5, the body of the malleus is smaller than normal

• double homozygotes show a stronger hypomorphism of the malleus relative to single Msx1^tm1Rilm mutants

abnormal external auditory canal morphology ( J:83306 )

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

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:83306 )

abnormal malleus morphology ( J:83306 )

• at E14.5, the body of the malleus is reduced and remains attached to a malformed Meckel's cartilage

absent malleus manubrium ( J:83306 )

• at E14.5, the malleal manubrium is absent

absent malleus processus brevis ( J:83306 )

• at E14.5, the malleal processus brevis is absent

small malleus ( J:83306 )

• at E14.5, the body of the malleus is smaller than normal

• double homozygotes show a stronger hypomorphism of the malleus relative to single Msx1^tm1Rilm mutants

abnormal external auditory canal morphology ( J:83306 )

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

absent tympanic ring ( J:83306 )

• at E14.5 and E15.5, the tympanic ring is not found

skeleton

abnormal Meckel's cartilage morphology ( J:83306 )

• at E14.5, the Meckel's cartilage displays a curvature at the caudal end

abnormal middle ear ossicle morphology ( J:83306 )

abnormal malleus morphology ( J:83306 )

• at E14.5, the body of the malleus is reduced and remains attached to a malformed Meckel's cartilage

absent malleus manubrium ( J:83306 )

• at E14.5, the malleal manubrium is absent

absent malleus processus brevis ( J:83306 )

• at E14.5, the malleal processus brevis is absent

small malleus ( J:83306 )

• at E14.5, the body of the malleus is smaller than normal

• double homozygotes show a stronger hypomorphism of the malleus relative to single Msx1^tm1Rilm mutants

growth/size/body

abnormal external auditory canal morphology ( J:83306 )

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

Allelic Composition	Msx1^tm1Rilm/Msx1^tm1Rilm Msx2^tm1Rilm/Msx2⁺
Genetic Background	involves: 129S4/SvJae * CD-1

Find Mice

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:83306 )

N	• compound mutants display formation of the malleal manubrium

Allelic Composition	Msx1^tm1Rilm/Msx1⁺ Msx2^tm1Rilm/Msx2^tm1Rilm
Genetic Background	involves: 129S4/SvJae * CD-1

Find Mice

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:83306 )

N	• compound mutants display normal development of the malleus in the middle ear

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