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Phenotypes Associated with This Genotype
Genotype
MGI:5295995
Allelic
Composition
Frem1bat/Frem1+
Genetic
Background
C57BL/6J-Frem1bat
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1bat mutation (1 available); any Frem1 mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia

skeleton
• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion
• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly, although less severe than seen in homozygotes

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

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


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
09/19/2017
MGI 6.10
The Jackson Laboratory