Phenotypes Associated with This Genotype

Genotype
MGI:2656223

• Allelic Composition: Bey/Bey⁺
• Genetic Background: 129S/SvEv-Bey

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal frontal bone morphology ( J:47965 )

• altered frontal cranial structure is 100% penetrant in males and 75% penetrant in females

maxilla hypoplasia ( J:47965 )

• maxillary hypoplasia results in an undershot upper jaw

short maxilla ( J:47965 )

• upper jaw structures (maxillary bones) are reduced in length

domed cranium ( J:47965 )

abnormal facial morphology ( J:47965 )

• squat looking face

• abnormalities of the foreface

short nasal bone ( J:47965 )

• nasal bones are reduced in length

short snout ( J:47965 )

skeleton

abnormal frontal bone morphology ( J:47965 )

• altered frontal cranial structure is 100% penetrant in males and 75% penetrant in females

maxilla hypoplasia ( J:47965 )

• maxillary hypoplasia results in an undershot upper jaw

short maxilla ( J:47965 )

• upper jaw structures (maxillary bones) are reduced in length

short nasal bone ( J:47965 )

• nasal bones are reduced in length

domed cranium ( J:47965 )

premature cranial suture closure ( J:47965 )

• premature closure of the cranial sutures from about 2 weeks after birth, with ossification (synostosis) of the sagittal, metopic, coronal, and interparietal/occipital sutures

premature coronal suture closure ( J:47965 )

premature lambdoid suture closure ( J:47965 )

premature metopic suture closure ( J:47965 )

premature sagittal suture closure ( J:47965 )

• at 9 weeks of age, the sagittal suture is obliterated by ossification, unlike in wild-type controls

premature intermaxillary suture closure ( J:47965 )

• ossification (synostosis) of the intermaxillary suture

vision/eye

exophthalmos ( J:47965 )

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

ocular hypertelorism ( J:47965 )

• increased interorbital distance

growth/size/body

abnormal facial morphology ( J:47965 )

• squat looking face

• abnormalities of the foreface

short nasal bone ( J:47965 )

• nasal bones are reduced in length

short snout ( J:47965 )

respiratory system

short nasal bone ( J:47965 )

• nasal bones are reduced in length

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