Phenotypes Associated with This Genotype

Genotype
MGI:3851250

• Allelic Composition: Tg(Kera-PITX2*A)BHjal/0
• Genetic Background: involves: C57BL/6 * CBA

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

vision/eye

abnormal iris morphology ( J:93634 )

• iris is hypertrophic at 5 days

anterior iris synechia ( J:93634 )

• iris in central and peripheral parts adheres to the cornea

abnormal cornea morphology ( J:93634 )

• corneas are hypertrophic to varying degrees at 5 days; corneal mesenchyme is massively hypertrophic and involuted toward hypertrophic iris

• at 1 month, corneal mesenchyme and epithelium are hypertrophic

• collagen superstructure is disrupted

• fibroblast cells are relaxed and expanded making contact with adjacent fibroblasts

abnormal cornea epithelium morphology ( J:93634 )

• at 5 days, corneal mesenchyme and epithelium are hypertrophic

decreased cornea epithelium thickness ( J:135637 )

• at 1 month, epithelium is 5-fold thinner than wild-type

cornea opacity ( J:93634 )

• eyes of 1-month old animals are opaque and tearing to varying degrees

• corneas are clouded and grainy, occluding light transmission

limbs/digits/tail

limbs/digits/tail phenotype ( J:135637 )

N • hindlimbs do not show abnormal phenotype

abnormal forelimb morphology ( J:93634 , J:135637 )

• mice show an abnormal forelimb phenotype (J:93634)

• phenotype occurs randomly on either left or right limb, although occasionally both forelimbs are affected (J:135637)

• malformation is most prominent distally and partly distorts olecranon fossa; elbow is locked in simultaneous pronation-extension along with 180 degree twist of paw making limb insufficient for support (J:135637)

• biceps brachii of forelimb has misplaced insertion; in controls, muscle inserts at proximal part of radius, but in mutants, distal tendon of biceps brachii is curled around radius and inserts dorsally at most distal part of radius (J:135637)

• abnormal muscle insertion results in limited elbow motion and permanent pronation of forelimb (J:135637)

abnormal humerus morphology ( J:135637 )

• humerus is shortened, thickened and malformed in affected animals in newborns

• at E18.5, distal thickening of the humerus is apparent, partly dislocating the radius anteriorly and to slightly dislocate the proximal ulna to more lateral-dorsal position making ulna appear twisted

• however, bone and cartilage zones appear normal at all ages examined

abnormal deltoid tuberosity morphology ( J:135637 )

• diminished in affected mice at E18.5

abnormal olecranon fossa morphology ( J:135637 )

• the humerus malformation is most prominent distally and partly distorts the olecranon fossa

short humerus ( J:135637 )

• humerus is shortened

abnormal radius morphology ( J:135637 )

• radius is bent proximally and approaches elbow joint from straight angle in newborns

abnormal ulna morphology ( J:135637 )

• proximal ulna is slightly dislocated due to olecranon fossa distortion

skeleton

abnormal humerus morphology ( J:135637 )

• humerus is shortened, thickened and malformed in affected animals in newborns

• at E18.5, distal thickening of the humerus is apparent, partly dislocating the radius anteriorly and to slightly dislocate the proximal ulna to more lateral-dorsal position making ulna appear twisted

• however, bone and cartilage zones appear normal at all ages examined

abnormal deltoid tuberosity morphology ( J:135637 )

• diminished in affected mice at E18.5

abnormal olecranon fossa morphology ( J:135637 )

• the humerus malformation is most prominent distally and partly distorts the olecranon fossa

short humerus ( J:135637 )

• humerus is shortened

abnormal radius morphology ( J:135637 )

• radius is bent proximally and approaches elbow joint from straight angle in newborns

abnormal ulna morphology ( J:135637 )

• proximal ulna is slightly dislocated due to olecranon fossa distortion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Axenfeld-Rieger syndrome type 1		DOID:0110120	OMIM:180500	J:93634