Phenotypes Associated with This Genotype

Genotype
MGI:5524023

• Allelic Composition: Trp53^tm1.1Tldo/Trp53^tm1.1Tldo
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

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

mortality/aging

premature death ( J:199308 )

• most homozygotes die 14-43 days following birth; mice that live past 3 months have an agouti coat color suggesting presence of a modifier gene linked to the A^w/a locus with the 129 allele (A^w) correlating to increased survival

postnatal lethality, incomplete penetrance ( J:199308 )

• mice are born at Mendelian proportions, but most die 14-43 days following birth

growth/size/body

cardiac hypertrophy ( J:199308 )

oral leukoplakia ( J:199308 )

abnormal tongue morphology ( J:199308 )

• tongues show acanthosis and hyperparakeratosis, typical of oral leukoplakia

decreased body size ( J:199308 )

• mice that die before 1 month are much smaller than littermates

hematopoietic system

increased thymocyte apoptosis ( J:199308 )

• apoptosis is significantly higher in mutants

decreased bone marrow cell number ( J:199308 )

• marrow cellularity is dramatically decreased

pancytopenia ( J:199308 )

• mice exhibit severe pancytopenia

nervous system

cerebellum hypoplasia ( J:199308 )

integument

nail dystrophy ( J:199308 )

increased foot pad pigmentation ( J:199308 )

• foot pads are much darker than controls

increased tail pigmentation ( J:199308 )

• tail skin is slightly darker than controls at P28

pigmentation

increased foot pad pigmentation ( J:199308 )

• foot pads are much darker than controls

increased tail pigmentation ( J:199308 )

• tail skin is slightly darker than controls at P28

cardiovascular system

cardiac hypertrophy ( J:199308 )

immune system

increased thymocyte apoptosis ( J:199308 )

• apoptosis is significantly higher in mutants

reproductive system

small gonad ( J:199308 )

• males display hypogonadism

limbs/digits/tail

increased foot pad pigmentation ( J:199308 )

• foot pads are much darker than controls

increased tail pigmentation ( J:199308 )

• tail skin is slightly darker than controls at P28

craniofacial

oral leukoplakia ( J:199308 )

abnormal tongue morphology ( J:199308 )

• tongues show acanthosis and hyperparakeratosis, typical of oral leukoplakia

respiratory system

pulmonary fibrosis ( J:199308 )

• mice develop pulmonary fibrosis

cellular

decreased telomere length ( J:199308 )

• telomeres in homozygous mutant cells are shorter than in wild-type

increased thymocyte apoptosis ( J:199308 )

• apoptosis is significantly higher in mutants

digestive/alimentary system

oral leukoplakia ( J:199308 )

abnormal tongue morphology ( J:199308 )

• tongues show acanthosis and hyperparakeratosis, typical of oral leukoplakia

endocrine/exocrine glands

increased thymocyte apoptosis ( J:199308 )

• apoptosis is significantly higher in mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dyskeratosis congenita		DOID:2729	OMIM:PS127550	J:199308