Mouse Genome Informatics
hm
    Cdkn2atm1Cjs/Cdkn2atm1Cjs
involves: 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Abnormal retrolental tissue present in the eyes of neonatal Cdkn2atm1Cjs/Cdkn2atm1Cjs mice

tumorigenesis
• by 2 months of age,tumors began to develop and by 6 months 6 of 18 mice had malignant tumors
• following DMBA treatment 1 week after birth, 9 of 11 mice developed skin tumors by 9-20 weeks of age with 2 mice developing invasive epidermoid carcinomas and 3 mice developing 2 tumors of different histological types
• DMBA induced tumors skin tumors occurred at multiple sites and had varying degrees of anaplasia
• malignant fibrous histocytoma
• metastatic salivary gland carcinoma
• 2 of 18 had fibrosarcomas
• following gamma-irradiation of newborn mice, 4 of 6 mice developed fibrosarcomas or anaplastic T cell lymphomas

cellular
• MEFs were less responsive to contact-induced growth inhibition
• MEFs showed increased proliferative capacity, faster growth rate, and no senescence crisis was ever detected

vision/eye
N
• despite expression in the cornea, no obvious thinning of the cornea is detected (J:149526)
• at around P14, the lens undergoes degenerative changes characterized by vacuolization and lens material degradation; an attempt at lens repair beyond P14 is manifested by the accumulation of lens epithelial cells lining a regenerated posterior capsule
• attachment of the retrolental tissue to the posterior lens and extrusion of lens material into the retrolental tissue
• lens capsule destruction
• failure of hyaloid vascular regression that causes a pathological process that resembles persistent hyperplastic primary vitreous (J:75215)
• proliferation continues in the hyperplastic primary vitreous at E18.5 (J:149526)
• show increased cell proliferation in the developing vitreous between E12.5 and E13.5
• at P14 and beyond, the neuroretina is abnormal, with the presence of retinal folds, progressive physical attachment of the retrolental mass to the neuroretina, and progressive detachment of the neuroretina from the retina pigment epithelium
• at P14 and beyond, the retina exhibits rosette-like arrangements of dysplastic photoreceptor cells
• in the areas where observe progressive physical attachment of the retrolental mass to the neuroretina, the ganglion cell layer is disorganized
• in the areas where observe progressive physical attachment of the retrolental mass to the neuroretina, the inner nuclear cell layer is disorganized
• at P14 and beyond, exhibit progressive detachment of the neuroretina from the retina pigment epithelium

nervous system
• at P14 and beyond, the retina exhibits rosette-like arrangements of dysplastic photoreceptor cells

homeostasis/metabolism
• following DMBA treatment 1 week after birth, 9 of 11 mice developed skin tumors by 9-20 weeks of age with 2 mice developing invasive epidermoid carcinomas and 3 mice developing 2 tumors of different histological types
• DMBA induced tumors skin tumors occurred at multiple sites and had varying degrees of anaplasia

integument
• malignant fibrous histocytoma

Mouse Models of Human Disease
OMIM IDRef(s)
Oculopalatocerebral Syndrome 257910 J:75215