Mouse Genome Informatics
hm1
    Ednrbs-36Pub/Ednrbs-36Pub
B6.Cg-Ednrbs-36Pub
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• at E18.5, palatal processes of the maxilla are reduced or vestigal in morphology
• at E18.5, palatal processes of palatine bones are absent
• at E14.5, the posterior palate has not acquired shape changes necessary for medially-directed outgrowth
• incidence is 27%
• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae
• at E14.5, region of soft palate has not acquired shape changes necessary for medially-directed outgrowth
• homozygotes show high incidence (83%) of cleft secondary palate
• at E14.5, palatal shelves have not elevated in the anterior half compared to wild-type palate
• by E15.5, palate has not elevated dorsal to tongue, compared to wild-type

skeleton
• at E18.5, palatal processes of the maxilla are reduced or vestigal in morphology
• at E18.5, palatal processes of palatine bones are absent
• extent of ossification in palate at E15.5 is significantly reduced compared to wild-type

digestive/alimentary system
• at E18.5, palatal processes of the maxilla are reduced or vestigal in morphology
• at E18.5, palatal processes of palatine bones are absent
• at E14.5, the posterior palate has not acquired shape changes necessary for medially-directed outgrowth
• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae
• at E14.5, region of soft palate has not acquired shape changes necessary for medially-directed outgrowth
• homozygotes show high incidence (83%) of cleft secondary palate
• at E14.5, palatal shelves have not elevated in the anterior half compared to wild-type palate
• by E15.5, palate has not elevated dorsal to tongue, compared to wild-type

cellular
• at E14.5, mitotic index in palates is increased relative to wild-type; indices are also elevated regionally compared to wild-type at E13.5 and E15.5
• proliferation is elevated in epithelium and mesenchyme, most significantly in the mid to posterior palate


Mouse Genome Informatics
hm2
    Ednrbs-36Pub/Ednrbs-36Pub
involves: 101/Rl * C3H/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

nervous system

skeleton


Mouse Genome Informatics
ht3
    Ednrbs-36Pub/Ednrb+
involves: 101/Rl * C3H/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• described as small and runted


Mouse Genome Informatics
ht4
    Ednrbs/Ednrbs-36Pub
involves: 101/Rl * C3H/Rl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• described as small and runted

pigmentation

integument


Mouse Genome Informatics
cx5
    Ednrbs-36Pub/Ednrbs-36Pub
Tg(Spry2)2Tpo/0

B6.Cg-Ednrbs-36Pub Tg(Spry2)2Tpo
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
N
• transgenic mice show complete rescue of cleft lip phenotype (J:125229)
• at E18.5, bones of hard palate are reduced in size and show altered morphology
• at E18.5, palatal processes of maxilla are reduced in size and show altered morphology
• incidence of cleft secondary palate is reduced to 42% in non-transgenic homozygotes

skeleton
• at E18.5, palatal processes of maxilla are reduced in size and show altered morphology

digestive/alimentary system
• at E18.5, bones of hard palate are reduced in size and show altered morphology
• at E18.5, palatal processes of maxilla are reduced in size and show altered morphology
• incidence of cleft secondary palate is reduced to 42% in non-transgenic homozygotes


Mouse Genome Informatics
cx6
    Ednrbs-36Pub/Ednrbs-36Pub
Tg(Spry2)69Tpo/0

B6.Cg-Ednrbs-36Pub Tg(Spry2)69Tpo
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
N
• transgenic mice show complete rescue of cleft lip phenotype (J:125229)
• at E18.5, bones of hard palate are reduced in size and show altered morphology
• at E18.5, palatal processes of maxilla are reduced in size and show altered morphology
• incidence of cleft secondary palate is reduced to 8% in non-transgenic homozygotes

skeleton
• at E18.5, palatal processes of maxilla are reduced in size and show altered morphology

digestive/alimentary system
• at E18.5, bones of hard palate are reduced in size and show altered morphology
• at E18.5, palatal processes of maxilla are reduced in size and show altered morphology
• incidence of cleft secondary palate is reduced to 8% in non-transgenic homozygotes


Mouse Genome Informatics
cx7
    Ednrbs-36Pub/Ednrb+
Spry2tm1.1Mrt/Spry2+

involves: 101/Rl * 129P2/OlaHsd * C3H/Rl * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae
• compound mutants display 35% incidence of cleft secondary palate

digestive/alimentary system
• rugae morphology is disorganized and fragmented in cleft palate, whereas wild-type palates exhibit orderly array of 7-9 rugae
• compound mutants display 35% incidence of cleft secondary palate