Phenotypes Associated with This Genotype

Genotype
MGI:2175120

• 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)

• ♀: 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