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Phenotypes Associated with This Genotype
Genotype
MGI:2656223
Allelic
Composition
Bey/Bey+
Genetic
Background
129S/SvEv-Bey
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phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• altered frontal cranial structure is 100% penetrant in males and 75% penetrant in females
• maxillary hypoplasia results in an undershot upper jaw
• upper jaw structures (maxillary bones) are reduced in length
• nasal bones are reduced in length
• squat looking face
• abnormalities of the foreface

skeleton
• altered frontal cranial structure is 100% penetrant in males and 75% penetrant in females
• maxillary hypoplasia results in an undershot upper jaw
• upper jaw structures (maxillary bones) are reduced in length
• nasal bones are reduced in length
• premature closure of the cranial sutures from about 2 weeks after birth, with ossification (synostosis) of the sagittal, metopic, coronal, and interparietal/occipital sutures
• at 9 weeks of age, the sagittal suture is obliterated by ossification, unlike in wild-type controls
• ossification (synostosis) of the intermaxillary suture

vision/eye
• 100% penetrance in males and 75% penetrance in females; bulging eyes are due to skeletal defects as eye size is normal
• increased interorbital distance

growth/size/body
• squat looking face
• abnormalities of the foreface

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Crouzon syndrome DOID:2339 OMIM:123500
J:47965


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/17/2018
MGI 6.11
The Jackson Laboratory