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 Euro Europhenome
N normal phenotype
mortality/aging
complete embryonic lethality ( J:94270 )
• homozygotes die before E9.5

cardiovascular system

craniofacial
abnormal facial morphology ( J:94270 )
• gross defects in facial development are seen

embryogenesis

limbs/digits/tail
abnormal limb morphology ( J:94270 )
• gross defects in limb development are seen

nervous system
abnormal brain development ( J:94270 )
• defects in neural 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 Euro Europhenome
N normal phenotype
mortality/aging
complete embryonic lethality during organogenesis ( J:79027 , J:98216 )
• embryos arrested at E9.0-E9.5 (J:79027)
• die at E9.0 (J:98216)

cardiovascular system
failure of heart looping ( J:79027 )
• embryos lacked asymmetrical heart looping

craniofacial
abnormal head shape ( J:79027 )
• embryos possessed abnormally shaped heads

embryogenesis
abnormal direction of embryo turning ( J:79027 )
• embryonic turning occurred in a randomized direction
abnormal left-right axis patterning ( J:98216 )
• left-right randomization
abnormal neural tube morphology/development ( J:79027 )
• neural tube was dorsalized

homeostasis/metabolism

limbs/digits/tail
abnormal forelimb morphology ( J:79027 )
• embryos possessed relatively large forelimbs

nervous system
nervous system phenotype ( J:79027 )
N
• intact notochord (J:79027)
abnormal neural tube morphology/development ( J:79027 )
• neural tube was dorsalized
abnormal spinal cord morphology ( J:98216 )
• dorsalized spinal cord


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 Euro Europhenome
N normal phenotype
craniofacial
abnormal basisphenoid bone morphology ( J:92058 )
• misshapen or absent
abnormal frontal bone morphology ( J:92058 )
• severe losses of frontal component
abnormal occipital bone morphology ( J:92058 )
• misshapen or absent
abnormal viscerocranium morphology ( J:92058 )
• loss of primary palate, premaxillary and nasal components
abnormal head morphology ( J:92058 )
• severe midline facial defects by E10.5
abnormal vomeronasal organ morphology ( J:92058 )
• lack vomeronasal organs
absent upper incisors ( J:92058 )
• loss of upper incisors

endocrine/exocrine glands
absent pituitary gland ( J:92058 )
• failed to develop

respiratory system
abnormal vomeronasal organ morphology ( J:92058 )
• lack vomeronasal organs
abnormal nasopharynx morphology ( J:92058 )
• nasopharyngeal airway narrowed or closed

skeleton
abnormal basisphenoid bone morphology ( J:92058 )
• misshapen or absent
abnormal frontal bone morphology ( J:92058 )
• severe losses of frontal component
abnormal occipital bone morphology ( J:92058 )
• misshapen or absent
abnormal viscerocranium morphology ( J:92058 )
• loss of primary palate, premaxillary and nasal components
abnormal chondrocyte morphology ( J:92058 )
• delayed differentiation in the cervical region

nervous system
abnormal vomeronasal organ morphology ( J:92058 )
• lack vomeronasal organs
absent pituitary gland ( J:92058 )
• failed to develop


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 Euro Europhenome
N normal phenotype
mortality/aging

craniofacial
abnormal nasal pit morphology ( J:94270 )
• fusion of the nasal pits
abnormal facial morphology ( J:94270 )
• facial midline defects are seen

skeleton

nervous system
abnormal neuron differentiation ( J:94270 )
• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

embryogenesis

respiratory system
abnormal nasal pit morphology ( J:94270 )
• fusion of the nasal pits

cellular
abnormal neuron differentiation ( J:94270 )
• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type


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 Euro Europhenome
N normal phenotype
mortality/aging
complete perinatal lethality ( J:94270 )
• compound mutants die around birth unlike Disp1 single homozygotes which die before E9.5

craniofacial
abnormal frontonasal prominence morphology ( J:94270 )
• 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 Euro Europhenome
N normal phenotype
limbs/digits/tail
oligodactyly ( J:92504 )
• 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 Euro Europhenome
N normal phenotype
cardiovascular system
failure of heart looping ( J:92058 )
• no heart looping but normal embryo turning

nervous system
abnormal neuron specification ( J:92058 )
• ventral midline of neural tube occupied by a reduced population of motor neuron progenitors

craniofacial
proboscis ( J:92058 )
• 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 Euro Europhenome
N normal phenotype
mortality/aging
complete embryonic lethality ( J:79027 )
• embryos arrested at E9.0-9.5

craniofacial
abnormal head morphology ( J:79027 )
• heads of the embryos appeared truncated

nervous system
abnormal neural tube morphology/development ( J:79027 )
• neural tube was ventralized

embryogenesis
abnormal neural tube morphology/development ( J:79027 )
• neural tube was ventralized