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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Frem1bat
bat
MGI:3526691
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Frem1bat/Frem1bat C57BL/6J-Frem1bat MGI:3665272
ht2
Frem1bat/Frem1+ C57BL/6J-Frem1bat MGI:5295995


Genotype
MGI:3665272
hm1
Allelic
Composition
Frem1bat/Frem1bat
Genetic
Background
C57BL/6J-Frem1bat
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1bat mutation (1 available); any Frem1 mutation (3 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 (J:200884)
• coloboma defects are associated with defects in formation of the conjunctiva (J:200884)
• coloboma defects are associated with cornea fibrosis (J:200884)
• coloboma defects are associated with cornea fibrosis (J:200884)
• coloboma defects are associated with absence of corneal epithelium leading to thinning of the cornea (J:200884)
• coloboma defects are associated with absence of corneal epithelium leading to thinning of the cornea (J:200884)
• coloboma defects are associated with absence of corneal epithelium (J:200884)
• coloboma defects are associated with absence of corneal epithelium (J:200884)
• defects in the adhesion of the surface ectoderm and corneal stroma (J:92613)
• defects in the adhesion of the surface ectoderm and corneal stroma (J:92613)
• several mutants exhibit eyelid coloboma similar to that seen in Manitoba-oculo-tricho-anal syndrome, affecting only one part of the eyelid (J:200884)
• 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 (J:200884)
• several mutants exhibit eyelid coloboma similar to that seen in Manitoba-oculo-tricho-anal syndrome, affecting only one part of the eyelid (J:200884)
• 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 (J:200884)
• greater intercanthal distance (J:200884)
• greater intercanthal distance (J:200884)
• have no true eyelids and the closed-eye appearance results from the presence of a pseudoblepharon that can be either unilateral or bilateral (J:92613)
• have no true eyelids and the closed-eye appearance results from the presence of a pseudoblepharon that can be either unilateral or bilateral (J:92613)
• majority of mutants exhibit cryptophthalmos (J:200884)
• majority of mutants exhibit cryptophthalmos (J:200884)

limbs/digits/tail
• seen occasionally (J:92613)
• seen occasionally (J:92613)

renal/urinary system
• exhibit renal abnormalities (J:92613)
• exhibit renal abnormalities (J:92613)
• about 20% of adults show unilateral renal agenesis (J:92613)
• about 20% of adults show unilateral renal agenesis (J:92613)

integument
• epidermis separates from the dermis below the level of the lamina densa creating blebs/blisters during embryonic development (J:92613)
• 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 (J:92613)
• from E13.5, develop blebs located predominantly around the eyes and the sides of the head (J:92613)
• epidermis separates from the dermis below the level of the lamina densa creating blebs/blisters during embryonic development (J:92613)
• 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 (J:92613)
• from E13.5, develop blebs located predominantly around the eyes and the sides of the head (J:92613)

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

skeleton
• most mutants exhibit abnormal maxillary-premaxillary suture morphology (J:177282)
• most mutants exhibit abnormal maxillary-premaxillary suture morphology (J:177282)
• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice (J:177282)
• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice (J:177282)
• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly (J:177282)
• 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 (J:177282)
• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly (J:177282)
• 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 (J:177282)

digestive/alimentary system
• 4 of 138 mutants exhibit anal prolapse, showing protrusion of the rectal epithelia and an immune infiltrate in exposed tissue (J:200884)
• the musculature of the anal sphincter is present in mutants with anal prolapse but is misplaced (J:200884)
• however, anorectal musculature appears normal (J:200884)
• 4 of 138 mutants exhibit anal prolapse, showing protrusion of the rectal epithelia and an immune infiltrate in exposed tissue (J:200884)
• the musculature of the anal sphincter is present in mutants with anal prolapse but is misplaced (J:200884)
• however, anorectal musculature appears normal (J:200884)

growth/size/body
• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• reduction in snout length is inversely correlated with both cranial width and intercanthal distance (J:200884)
• reduction in snout length is inversely correlated with both cranial width and intercanthal distance (J:200884)




Genotype
MGI:5295995
ht2
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 (3 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 (J:177282)
• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)

skeleton
• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion (J:177282)
• 42% of heterozygotes exhibit variable sutural abnormalities, including complete fusion, sutural asymmetry and advanced endocranial suture fusion (J:177282)
• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly, although less severe than seen in homozygotes (J:177282)
• mutants exhibit anterofrontal cranial deformation similar to metopic craniosynostosis and trigonocephaly, although less severe than seen in homozygotes (J:177282)

growth/size/body
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)
• 2 of 21 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)

Mouse Models of Human Disease
OMIM ID Ref(s)
Chromosome 9p Deletion Syndrome 158170 J:177282





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory