Mouse Genome Informatics
hm1
    Spry2tm1Ayos/Spry2tm1Ayos
B6.Cg-Spry2tm1Ayos
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• about half die within 6 weeks after birth, with many of the remaining homozygotes surviving for at least 6 months

growth/size

digestive/alimentary system
• exhibit esophageal achalasia, showing a dilated esophagous that is clogged with saburra in 4 week or older mice
• intestinal gauge is partly dilated and filled with gas at 2 months of age
• contraction force of the lower esophageal sphincter in response to carbachol is more than 5 times stronger than in wild-type
• motility of the intestine in response to carbachol is abnormal
• intestinal pseudo-obstruction

nervous system
• enteric nervous system hyperplasia
• hypergangliosis of the enteric nervous system
• enteric nerve hyperplasia


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


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