Phenotypes associated with this allele

• Allele Symbol: Trp53^tm1.1Tldo
• Allele Name: targeted mutation 1.1, Franck Toledo
• Allele ID: MGI:5523909
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trp53^tm1.1Tldo/Trp53^tm1.1Tldo	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:5524023
ht2	Trp53^tm1.1Tldo/Trp53^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:5524022
cx3	Mdm2^tm1Glo/Mdm2^+ Trp53^tm1.1Tldo/Trp53^+	involves: 129S2/SvPas * 129S7/SvEvBrd * BALB/c * C57BL/6	MGI:5524024
cx4	Mdm4^tm1Glo/Mdm4^+ Trp53^tm1.1Tldo/Trp53^+	involves: 129S2/SvPas * BALB/c * C57BL/6	MGI:5524025

Genotype
MGI:5524023

hm1

• 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

Genotype
MGI:5524022

ht2

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

mortality/aging

mortality/aging ( J:199308 )

N • mortality is not different from wild type controls through 90 days; 3 heterozygotes (with black coat color) died within 1 year suggesting presence of a modifier gene linked to the A^w/a locus with the B6 allele (nonagouti, a) correlating to decreased survival

growth/size/body

growth/size/body region phenotype ( J:199308 )

N • at 28 days heterozygotes are not different from controls

cardiac hypertrophy ( J:199308 )

• the three mice which died within one year had hypertrophic hearts

cardiovascular system

cardiac hypertrophy ( J:199308 )

• the three mice which died within one year had hypertrophic hearts

integument

increased foot pad pigmentation ( J:199308 )

• foot pads are slightly darker than controls at P28

increased tail pigmentation ( J:199308 )

• tail skin is slightly darker than controls at P28

limbs/digits/tail

increased foot pad pigmentation ( J:199308 )

• foot pads are slightly darker than controls at P28

increased tail pigmentation ( J:199308 )

• tail skin is slightly darker than controls at P28

pigmentation

increased foot pad pigmentation ( J:199308 )

• foot pads are slightly darker than controls at P28

increased tail pigmentation ( J:199308 )

• tail skin is slightly darker than controls at P28

Genotype
MGI:5524024

cx3

• Allelic Composition: Mdm2^tm1Glo/Mdm2⁺; Trp53^tm1.1Tldo/Trp53⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * BALB/c * C57BL/6

mortality/aging

premature death ( J:199308 )

• some die within 3 months

hematopoietic system

decreased bone marrow cell number ( J:199308 )

• decreased compared to Trp53^tm1.1Tldo/+ mice

cellular

decreased telomere length ( J:199308 )

• decreased compared to Trp53^tm1.1Tldo/+ mice

Genotype
MGI:5524025

cx4

• Allelic Composition: Mdm4^tm1Glo/Mdm4⁺; Trp53^tm1.1Tldo/Trp53⁺
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

mortality/aging

premature death ( J:199308 )

• most die within 3 months

hematopoietic system

decreased bone marrow cell number ( J:199308 )

• decreased compared to Trp53^tm1.1Tldo/+ mice

cellular

decreased telomere length ( J:199308 )

• decreased compared to Trp53^tm1.1Tldo/+ mice