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Phenotypes Associated with This Genotype
Genotype
MGI:3665272
Allelic
Composition
Frem1bat/Frem1bat
Genetic
Background
C57BL/6J-Frem1bat
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1bat mutation (2 available); any Frem1 mutation (117 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Frem1bat/Frem1bat mice display crytophthalmos and embryonic blebbing

vision/eye
• coloboma defects are associated with defects in formation of the conjunctiva
• coloboma defects are associated with cornea fibrosis
• coloboma defects are associated with absence of corneal epithelium leading to thinning of the cornea
• coloboma defects are associated with absence of corneal epithelium
• defects in the adhesion of the surface ectoderm and corneal stroma
• several mutants exhibit eyelid coloboma similar to that seen in Manitoba-oculo-tricho-anal syndrome, affecting only one part of the eyelid
• coloboma defects are associated with failure of eyelid formation, defects in formation of the conjunctiva, and absence of corneal epithelium leading to thinning of the cornea and fibrosis on the external face
• greater intercanthal distance
• have no true eyelids and the closed-eye appearance results from the presence of a pseudoblepharon that can be either unilateral or bilateral
• majority of mutants exhibit cryptophthalmos (J:200884)

limbs/digits/tail
• seen occasionally

renal/urinary system
• exhibit renal abnormalities
• about 20% of adults show unilateral renal agenesis

integument
• epidermis separates from the dermis below the level of the lamina densa creating blebs/blisters during embryonic development
• Background Sensitivity: blebbing phenotype is 100% penetrant on a C57BL/6J background but is only about 70% penetrant on a mixed C57BL/6J and C3H/NeJ background
• from E13.5, develop blebs located predominantly around the eyes and the sides of the head

craniofacial
• abnormalities include medial depression along the internasal suture and/or marked curvature of the nasal bones
• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice
• medial depression along the internasal suture
• most mutants exhibit abnormal maxillary-premaxillary suture morphology
• marked curvature of the nasal bones
• slightly wider nasal bones
• upper midface is raised along the proximal aspect of the metopic suture and is wider at the level of the coronal suture
• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• slightly shorter philtrum-columella height
• reduction in snout length is inversely correlated with both cranial width and intercanthal distance (J:200884)

skeleton
• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice
• medial depression along the internasal suture
• most mutants exhibit abnormal maxillary-premaxillary suture morphology
• marked curvature of the nasal bones
• slightly wider nasal bones
• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly
• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice, with fusion seen at postnatal day 28 compared to day 45 in controls

digestive/alimentary system
• 4 of 138 mutants exhibit anal prolapse, showing protrusion of the rectal epithelia and an immune infiltrate in exposed tissue
• the musculature of the anal sphincter is present in mutants with anal prolapse but is misplaced
• however, anorectal musculature appears normal

growth/size/body
• marked curvature of the nasal bones
• slightly wider nasal bones
• upper midface is raised along the proximal aspect of the metopic suture and is wider at the level of the coronal suture
• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• slightly shorter philtrum-columella height
• reduction in snout length is inversely correlated with both cranial width and intercanthal distance (J:200884)

respiratory system
• marked curvature of the nasal bones
• slightly wider nasal bones


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory