Mouse Genome Informatics
hm1
    Spry4tm1Ayos/Spry4tm1Ayos
B6.Cg-Spry4tm1Ayos
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• fewer homozygotes are seen than expected at P7, although those that survive live to at least 12 months of age

growth/size/body
• 3 of 14 homozygotes show increased incisor size
• postnatal growth is reduced

craniofacial
• 4 of 7 E13.5-E18.5 embryos show mandible defects
• mutants that die shortly after birth exhibit mandible defects
• 3 of 14 show malocclusion
• 3 of 14 homozygotes show increased incisor size

limbs/digits/tail
• polysyndactyly is almost fully penetrative and characterized by fusion and duplication of digits at the forelimbs

skeleton
• 4 of 7 E13.5-E18.5 embryos show mandible defects
• mutants that die shortly after birth exhibit mandible defects
• 3 of 14 show malocclusion

respiratory system
N
• homozygotes exhibit normal lung branching (J:116506)


Mouse Genome Informatics
cx2
    Spry2tm1Ayos/Spry2+
Spry4tm1Ayos/Spry4tm1Ayos

involves: 129 * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygotes are rarely born
• homozygotes that are born appear sick and most die within a few weeks of birth for unknown reasons

growth/size/body


Mouse Genome Informatics
cx3
    Spry2tm1Ayos/Spry2tm1Ayos
Spry4tm1Ayos/Spry4+

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


Mouse Genome Informatics
cx4
    Spry2tm1Ayos/Spry2tm1Ayos
Spry4tm1Ayos/Spry4tm1Ayos

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

vision/eye

craniofacial
• craniofacial abnormalities

limbs/digits/tail
• limb abnormalities

nervous system
• severe truncation of the forebrain and cephalic neural crest-derived head tissues
• alobar brain development and cyclopia resemble holoprosencephaly

respiratory system
• exhibit abnormalities of the lung pattern and epithelial branching

Mouse Models of Human Disease
OMIM IDRef(s)
Apert Syndrome 101200 J:116506