Mouse Genome Informatics
hm
    Msx1tm1Rilm/Msx1tm1Rilm
either: (involves: 129S4/SvJae-Msx1tm1Rilm) or (involves: 129S4/SvJae * BALB/c) or (involves: 129X1/SvJae * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• 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
• complete cleft of the secondary palate
• palatal shelves at E14.75 are properly elevated but have not fused with each other or with the nasal septum
• first and second molar teeth are profoundly retarded at the tooth bud stage
• the upper incisors of the maxilla and incisor tooth buds in the mandible are absent

hearing/vestibular/ear
• malleus is reduced in height

homeostasis/metabolism
• newborns become cyanotic prior to death

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

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

Mouse Models of Human Disease
OMIM IDRef(s)
Orofacial Cleft 5; OFC5 608874 J:17489
Tooth Agenesis, Selective, 1; STHAG1 106600 J:17489