Mouse Genome Informatics
hm1
    Disp1tm1Amc/Disp1tm1Amc
involves: 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• die at birth, difficulty breathing

craniofacial
• loss of primary palate
• mild midline facial defects involving the nose and upper jaw
• hypoplastic philtrum
• loss of upper incisors
• fused vomeronasal organs

endocrine/exocrine glands

respiratory system
• fused vomeronasal organs
• nasopharyngeal airway narrowed or closed
• difficulty breathing at birth leading to death

skeleton
• loss of primary palate

nervous system
• fused vomeronasal organs
• 40% reduction of progenitor V3 population

vision/eye
• eyes positioned near the midline

growth/size
• mild midline facial defects involving the nose and upper jaw
• hypoplastic philtrum
• loss of upper incisors
• fused vomeronasal organs


Mouse Genome Informatics
ht2
    Disp1icb/Disp1tm1Amc
involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• misshapen or absent
• misshapen or absent
• loss of primary palate, premaxillary and nasal components
• severe losses of frontal component
• loss of upper incisors
• lack vomeronasal organs

endocrine/exocrine glands
• failed to develop

respiratory system
• lack vomeronasal organs
• nasopharyngeal airway narrowed or closed

skeleton
• misshapen or absent
• misshapen or absent
• loss of primary palate, premaxillary and nasal components
• severe losses of frontal component
• delayed differentiation in the cervical region

nervous system
• lack vomeronasal organs
• failed to develop

growth/size
• severe midline facial defects by E10.5
• loss of upper incisors
• lack vomeronasal organs


Mouse Genome Informatics
cn3
    Disp1icb/Disp1tm1Amc
Shhtm1(EGFP/cre)Cjt/Shh+

involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
limbs/digits/tail
• digit 2 is absent, all other digits are present


Mouse Genome Informatics
cx4
    Disp1tm1Amc/Disp1tm1Amc
Ptch1tm1Mps/Ptch1+

involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• viable fertile, and outwardly normal

nervous system
N
• normal floor plate and progenitor/precursor neuron patterning (J:92058)


Mouse Genome Informatics
cx5
    Disp1icb/Disp1tm1Amc
Shhtm1Amc/Shh+

involves: 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• no heart looping but normal embryo turning

nervous system
• ventral midline of neural tube occupied by a reduced population of motor neuron progenitors

craniofacial
• extreme proboscis-like nasal process

growth/size
• extreme proboscis-like nasal process

Mouse Models of Human Disease
OMIM IDRef(s)
Holoprosencephaly 3; HPE3 142945 J:92058