All Phenotypes Frem1<bat> MGI Mouse

vision/eye

abnormal conjunctiva morphology ( J:200884 )

• coloboma defects are associated with defects in formation of the conjunctiva

abnormal cornea morphology ( J:200884 )

• coloboma defects are associated with cornea fibrosis

absent cornea epithelium ( J:200884 )

• coloboma defects are associated with absence of corneal epithelium

decreased cornea thickness ( J:200884 )

• coloboma defects are associated with absence of corneal epithelium leading to thinning of the cornea

abnormal eye development ( J:92613 )

• defects in the adhesion of the surface ectoderm and corneal stroma

coloboma ( J:200884 )

• 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

increased inner canthal distance ( J:200884 )

• greater intercanthal distance

absent eyelids ( 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

cryptophthalmos ( J:92613 , J:200884 )

• majority of mutants exhibit cryptophthalmos (J:200884)

limbs/digits/tail

syndactyly ( J:92613 )

• seen occasionally

renal/urinary system

abnormal kidney morphology ( J:92613 )

• exhibit renal abnormalities

single kidney ( J:92613 )

• about 20% of adults show unilateral renal agenesis

integument

bleb ( J:92613 )

• 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

abnormal craniofacial morphology ( J:177282 )

• abnormalities include medial depression along the internasal suture and/or marked curvature of the nasal bones

abnormal metopic suture morphology ( J:177282 )

• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice

abnormal internasal suture morphology ( J:177282 )

• medial depression along the internasal suture

abnormal maxillary-premaxillary suture morphology ( J:177282 )

• most mutants exhibit abnormal maxillary-premaxillary suture morphology

abnormal nasal bone morphology ( J:177282 )

• marked curvature of the nasal bones

broad nasal bone ( J:177282 )

• slightly wider nasal bones

abnormal midface morphology ( J:177282 )

• upper midface is raised along the proximal aspect of the metopic suture and is wider at the level of the coronal suture

midface hypoplasia ( J:177282 , J:200884 )

• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)

short philtrum ( J:200884 )

• slightly shorter philtrum-columella height

short snout ( J:177282 , J:200884 )

• reduction in snout length is inversely correlated with both cranial width and intercanthal distance (J:200884)

trigonocephaly ( J:177282 )

skeleton

abnormal metopic suture morphology ( J:177282 )

• mutants exhibit advanced fusion of the posterior frontal suture compared to wild-type mice

abnormal internasal suture morphology ( J:177282 )

• medial depression along the internasal suture

abnormal maxillary-premaxillary suture morphology ( J:177282 )

• most mutants exhibit abnormal maxillary-premaxillary suture morphology

abnormal nasal bone morphology ( J:177282 )

• marked curvature of the nasal bones

broad nasal bone ( J:177282 )

• slightly wider nasal bones

premature metopic suture closure ( J:177282 )

• 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

rectal prolapse ( J:200884 )

• 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

abnormal nasal bone morphology ( J:177282 )

• marked curvature of the nasal bones

broad nasal bone ( J:177282 )

• slightly wider nasal bones

abnormal midface morphology ( J:177282 )

• upper midface is raised along the proximal aspect of the metopic suture and is wider at the level of the coronal suture

midface hypoplasia ( J:177282 , J:200884 )

• 7 of 16 mutants exhibit varying degrees of midfacial asymmetry and/or midface hypoplasia (J:177282)

short philtrum ( J:200884 )

• slightly shorter philtrum-columella height

short snout ( J:177282 , J:200884 )

• reduction in snout length is inversely correlated with both cranial width and intercanthal distance (J:200884)

trigonocephaly ( J:177282 )

respiratory system

abnormal nasal bone morphology ( J:177282 )

• marked curvature of the nasal bones

broad nasal bone ( J:177282 )

• slightly wider nasal bones

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
chromosome 9p deletion syndrome	DOID:0060732	OMIM:158170	J:177282
Fraser syndrome	DOID:0090001	OMIM:PS219000	J:92613

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

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

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