Mouse Genome Informatics
tg
    Tg(Kera-PITX2*A)BHjal/0
involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• iris is hypertrophic at 5 days
• iris in central and peripheral parts adheres to the cornea
• 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
• at 5 days, corneal mesenchyme and epithelium are hypertrophic; at 1 month, epithelium is 5-fold thinner than wild-type
• eyes of 1-month old animals are opaque and tearing to varying degrees
• corneas are clouded and grainy, occluding light transmission

limbs/digits/tail
N
• hindlimbs do not show abnormal phenotype (J:135637)
• mice show an abnormal forelimb phenotype (J:93634)
• abnormal muscle insertion results in limited elbow motion and permanent pronation of forelimb (J:135637)
• 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)
• 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
• diminished in affected mice at E18.5
• radius is bent proximally and approaches elbow joint from straight angle in newborns
• proximal ulna is slightly dislocated due to olecranon fossa distortion

skeleton
• 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
• diminished in affected mice at E18.5
• radius is bent proximally and approaches elbow joint from straight angle in newborns
• proximal ulna is slightly dislocated due to olecranon fossa distortion

Mouse Models of Human Disease
OMIM IDRef(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:93634