Mouse Genome Informatics
hm1
    Disp1icb/Disp1icb
involves: 129/Sv * C57BL/6J * SWR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygotes die before E9.5

cardiovascular system

craniofacial
• gross defects in facial development are seen

embryogenesis

limbs/digits/tail
• gross defects in limb development are seen

nervous system
• defects in neural development are seen

growth/size/body
• gross defects in facial development are seen


Mouse Genome Informatics
hm2
    Disp1icb/Disp1icb
involves: C3HeB/FeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos arrested at E9.0-E9.5 (J:79027)
• die at E9.0 (J:98216)

cardiovascular system
• embryos lacked asymmetrical heart looping

craniofacial
• embryos possessed abnormally shaped heads

embryogenesis
• embryonic turning occurred in a randomized direction
• left-right randomization
• neural tube was dorsalized

homeostasis/metabolism

limbs/digits/tail
• embryos possessed relatively large forelimbs

nervous system
N
• intact notochord (J:79027)
• neural tube was dorsalized
• dorsalized spinal cord

growth/size/body
• embryos possessed abnormally shaped heads


Mouse Genome Informatics
ht3
    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/body
• severe midline facial defects by E10.5
• loss of upper incisors
• lack vomeronasal organs


Mouse Genome Informatics
cn4
    Disp1icb/Disp1tm2Amc
Shhtm1(EGFP/cre)Cjt/Shh+

involves: 129/Sv * C57BL/6J * SWR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

craniofacial
• fusion of the nasal pits
• facial midline defects are seen

skeleton

nervous system
• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

embryogenesis

respiratory system
• fusion of the nasal pits

cellular
• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

growth/size/body
• facial midline defects are seen


Mouse Genome Informatics
cn5
    Disp1icb/Disp1icb
Shhtm1Amc/Shhtm5Amc
Tg(Sox2-cre)1Amc/0

involves: 129/Sv * C57BL/6J * SWR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• compound mutants die around birth unlike Disp1 single homozygotes which die before E9.5

craniofacial
• midline defects in the frontal nasal process are seen, however many of the developmental defects seen in Disp1 single homozygotes are rescued in the compound mutants


Mouse Genome Informatics
cn6
    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
cx7
    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/body
• extreme proboscis-like nasal process

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


Mouse Genome Informatics
cx8
    Disp1icb/Disp1icb
Ptch1tm1Mps/Ptch1tm1Mps

involves: C3HeB/FeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• embryos arrested at E9.0-9.5

nervous system
• neural tube was ventralized

embryogenesis
• neural tube was ventralized

growth/size/body
• heads of the embryos appeared truncated