Phenotypes Associated with This Genotype

Genotype
MGI:4420466

• Allelic Composition: Cdkn1a^tm1Tyj/Cdkn1a^tm1Tyj; Rb1^tm1Tyj/Rb1^tm1Tyj; Tg(Rb1)1Blg/0
• Genetic Background: involves: 129S2/SvPas

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

skeleton

abnormal deltoid tuberosity morphology ( J:65679 )

• less developed in some mice

absent deltoid tuberosity ( J:65679 )

• in some mice

decreased length of long bones ( J:65679 )

• compared with Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal scapula morphology ( J:65679 )

• at E16.5, the scapula is brittle and perforated with unclear boundaries between bone and cartilage compared to in heterozygous mice

abnormal sternocostal joint morphology ( J:65679 )

• at E17.5, ribs join the sternim at a 90 degree angle unlike in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

abnormal xiphoid process morphology ( J:65679 )

• at E17.5

abnormal sternum ossification ( J:65679 )

• at E17.5

fragile skeleton ( J:65679 )

muscle

abnormal myogenesis ( J:65679 )

• at E16.5, myotomes undergo nuclei catastrophe and exhibit increased apoptosis compared to in single homozygotes

abnormal skeletal muscle fiber morphology ( J:65679 )

• at E16.5 to E18.5, myotubes exhibit increased nuclear content compared with wild-type myotubes

• at E16.5, myotubes are shorter and more disorganize than in single homozygotes

abnormal muscle physiology ( J:65679 )

• at E16.5, skeletal muscle exhibit an increase in apoptosis compared with Cdkn1a^tm1Tyj/Cdkn1a⁺ Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

behavior/neurological

abnormal posture ( J:65679 )

• more severe than in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

hunched posture ( J:65679 )

• more severe than in Rb1^tm1Tyj/Rb1^tm1Tyj Tg(Rb1)1Blg mice

cardiovascular system

hemorrhage ( J:65679 )

• at E18.5, embryos exhibit patches of hemorrhage unlike wild-type mice

cellular

polyploidy ( J:65679 )

• at E16.5 to E18.5, myotubes exhibit increased nuclear content compared with wild-type myotubes

limbs/digits/tail

abnormal deltoid tuberosity morphology ( J:65679 )

• less developed in some mice

absent deltoid tuberosity ( J:65679 )

• in some mice