Phenotypes Associated with This Genotype

Genotype
MGI:2667352

• Allelic Composition: Twist1^tm1Bhr/Twist1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

craniofacial

craniofacial phenotype ( J:79294 )

N • the overall shape of the neurocranium was normal

temporal bone hypoplasia ( J:79294 )

• poorly developed

limbs/digits/tail

abnormal limb morphology ( J:79294 )

• observed in 71% of mice

skeleton

temporal bone hypoplasia ( J:79294 )

• poorly developed

premature cranial suture closure ( J:79294 )

• cranial suture abnormalities were observed in 89% of mice

• 68% showed complete or partial craniosynostosis of the occipitointerparietal (OIP) suture

premature coronal suture closure ( J:79294 )

• 57% showed complete or partial craniosynostosis of the coronal suture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Saethre-Chotzen syndrome		DOID:14768	OMIM:101400 OMIM:180750	J:79294