Phenotypes Associated with This Genotype

Genotype
MGI:5295995

• Allelic Composition: Frem1^bat/Frem1⁺
• Genetic Background: C57BL/6J-Frem1^bat

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

craniofacial

abnormal cranial suture morphology ( J:177282 )

• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion

asymmetric snout ( J:177282 )

• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia

short snout ( J:177282 )

• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia

trigonocephaly ( J:177282 )

skeleton

abnormal cranial suture morphology ( J:177282 )

• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion

premature metopic suture closure ( J:177282 )

• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly, although less severe than seen in homozygotes

growth/size/body

asymmetric snout ( J:177282 )

• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia

short snout ( J:177282 )

• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia

trigonocephaly ( J:177282 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 9p deletion syndrome		DOID:0060732	OMIM:158170	J:177282