Phenotypes associated with this allele

• Allele Symbol: Tinf2^tm2.2Tdl
• Allele Name: targeted mutation 2.2, Titia de Lange
• Allele ID: MGI:5556393
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tinf2^tm2.2Tdl/Tinf2^tm2.2Tdl	involves: BALB/cJ * C57BL/6	MGI:5556398
ht2	Tinf2^tm2.2Tdl/Tinf2^+	involves: BALB/cJ * C57BL/6	MGI:5556400
cx3	Terc^tm1Rdp/Terc^tm1Rdp Tinf2^tm2.2Tdl/Tinf2^+	involves: 129 * BALB/cJ * C57BL/6 * SJL	MGI:5556401

Genotype
MGI:5556398

hm1

• Allelic Composition: Tinf2^tm2.2Tdl/Tinf2^tm2.2Tdl
• Genetic Background: involves: BALB/cJ * C57BL/6

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

mortality/aging

embryonic lethality, complete penetrance ( J:207367 )

Genotype
MGI:5556400

ht2

• Allelic Composition: Tinf2^tm2.2Tdl/Tinf2⁺
• Genetic Background: involves: BALB/cJ * C57BL/6

behavior/neurological

seizures ( J:207367 )

• seizures are observed in 2/14 mice

cellular

decreased telomere length ( J:207367 )

• gradual and progressive shortening of telomeres over three generations

• increase in incidence of fragile telomeres in the bone marrow of G3 mice

endocrine/exocrine glands

seminiferous tubule degeneration ( J:207367 )

♂ • subset of seminiferous tubules exhibit complete atrophy in 2/10 males from G2 and G3 generations

testicular atrophy ( J:207367 )

♂ • partial testicular atrophy observed in 2/10 males from G2 and G3 generations

hematopoietic system

myeloid hyperplasia ( J:207367 )

• mild hyperplasia in the bone marrow is observed in 1/14 mice

pancytopenia ( J:207367 )

• mild pancytopenia affecting all hematopoietic lineages in G2 and G3 generations

immune system

myeloid hyperplasia ( J:207367 )

• mild hyperplasia in the bone marrow is observed in 1/14 mice

lymphoid hyperplasia ( J:207367 )

• follicular lymphoid hyperplasia is observed in 2/14 mice

dermatitis ( J:207367 )

• skin dermatitis with neutrophilic serocellular crusting is observed in 2/14 mice

integument

dermatitis ( J:207367 )

• skin dermatitis with neutrophilic serocellular crusting is observed in 2/14 mice

nervous system

seizures ( J:207367 )

• seizures are observed in 2/14 mice

hydrocephaly ( J:207367 )

• moderate hydrocephalus is observed in 1/14 mice

gliosis ( J:207367 )

• focal gliosis of white and grey matter in spinal cord is observed in 1/14 mice

reproductive system

seminiferous tubule degeneration ( J:207367 )

♂ • subset of seminiferous tubules exhibit complete atrophy in 2/10 males from G2 and G3 generations

testicular atrophy ( J:207367 )

♂ • partial testicular atrophy observed in 2/10 males from G2 and G3 generations

reduced fertility ( J:207367 )

• fertility is diminished over multiple generations of breeding

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dyskeratosis congenita		DOID:2729	OMIM:PS127550	J:207367

Genotype
MGI:5556401

cx3

• Allelic Composition: Terc^tm1Rdp/Terc^tm1Rdp; Tinf2^tm2.2Tdl/Tinf2⁺
• Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

cellular

abnormal chromosome morphology ( J:207367 )

• increase in chromosome ends without telomeric signals or signal loss from one of two sisters

decreased telomere length ( J:207367 )

• telomeres in bone marrow are shorter than homozygous Terc^tm1Rdp controls

• class of telomeres shorter than 15 kb is increased, while subfraction of longer telomeres is decreased