Mouse Genome Informatics
hm
    Fgfrl1tm1.1Ptew/Fgfrl1tm1.1Ptew
B6.129-Fgfrl1tm1.1Ptew
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• remaining mice die during birth or shortly after

skeleton
• at E18.5, mice exhibit hypoplasia of all skeletal elements, including shortened axial and appendicular skeletons, malformed vertebrae, a small pelvic girdle, and a small rib cage
• calvarial elements are thin with a defect in suture closure unlike in wild-type mice
• mice exhibit a large gap between the atlas and the occipital bone compared with wild-type mice
• the foramen magnum is displaced anteriorly compared to in wild-type mice
• mice exhibit severe hypoplasia and delayed fusion of the sphenoid, basisphenoid, and basioccipital bones compared with wild-type mice
• small and often incompletely ossified
• especially in the manubrium and xiphoid process
• cervical vertebrae ossification is delayed compared to in wild-type mice
• mice exhibit a large gap between the atlas and the occipital bone compared with wild-type mice
• mice exhibit a delay in suture closure between frontal and parietal bone compared with wild-type mice

craniofacial
• calvarial elements are thin with a defect in suture closure unlike in wild-type mice
• mice exhibit a large gap between the atlas and the occipital bone compared with wild-type mice
• the foramen magnum is displaced anteriorly compared to in wild-type mice
• mice exhibit severe hypoplasia and delayed fusion of the sphenoid, basisphenoid, and basioccipital bones compared with wild-type mice
• small and often incompletely ossified
• mice exhibit midfacial hypoplasia compared with wild-type mice

cardiovascular system
• at E16.5, the yolk sac lacks a clear vasculature and is devoid of blood unlike in wild-type mice
• seen as early as E14.5 and up to E18.5 and varied in severity
• seen in two mutant embryos at E18.5

hematopoietic system
• 23% at E16.5
• fetal anemia
• at E14.5, mice exhibit an increase in basophilic erythroblasts and a decrease in mature erythroblasts compared with wild-type mice
• however, mice exhibit a normal pattern of erythroid differentiation at E16.5

growth/size
• mice exhibit midfacial hypoplasia compared with wild-type mice
• surviving mice are smaller than normal at birth
• the sternum is bent inward unlike in wild-type mice

embryogenesis
• at E16.5, the yolk sac lacks a clear vasculature and is devoid of blood unlike in wild-type mice
• at E16.5, mice that die prior to birth exhibit pale placenta unlike wild-type mice

nervous system
• mcie exhibit brain overgrowth compared with wild-type mcie
• some mice exhibit bulging of the spinal cord at the gap between the atlas and occipital bone unlike in wild-type mice

muscle
• at E18.5, the lumbar and sternal muscle portions of the diaphragm are absent and the remaining costal portions are very thin compared to in wild-type mice

respiratory system

Mouse Models of Human Disease
OMIM IDRef(s)
Wolf-Hirschhorn Syndrome; WHS 194190 J:149673