Phenotypes associated with this allele

• Allele Symbol: Ttc7^fsn-Jic
• Allele Name: flaky skin, Central Institute for Experimental Animals, Japan
• Allele ID: MGI:3692528
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttc7^fsn-Jic/Ttc7^fsn-Jic	B6.INT-Ttc7^fsn-Jic	MGI:3692771
hm2	Ttc7^fsn-Jic/Ttc7^fsn-Jic	C3.INT-Ttc7^fsn-Jic	MGI:3692773
hm3	Ttc7^fsn-Jic/Ttc7^fsn-Jic	CBy.INT-Ttc7^fsn-Jic	MGI:3692772
ht4	Ttc7^fsn/Ttc7^fsn-Jic	involves: A/J * BALB/c * C57BL/6 * INT	MGI:3692890

Genotype
MGI:3692771

hm1

• Allelic Composition: Ttc7^fsn-Jic/Ttc7^fsn-Jic
• Genetic Background: B6.INT-Ttc7^fsn-Jic

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

mortality/aging

postnatal lethality, complete penetrance ( J:115742 )

• Background Sensitivity: mean lifespan of affected mice is 3.5 days

hematopoietic system

anemia ( J:115742 )

increased fetal derived definitive erythrocyte cell number ( J:115742 )

• in peripheral blood, number of fetal nucleated red blood cells (FNRBC) decreased to E14.5, then increase gradually up to E17.5, while in controls, FNRBC count decreases gradually to E17.5; numbers of FNRBCs is 20-fold higher than in controls at E17.5

pigmentation

abnormal tail pigmentation ( J:115742 )

• tails of homozygotes are lined

limbs/digits/tail

abnormal tail pigmentation ( J:115742 )

• tails of homozygotes are lined

integument

integument phenotype ( J:115742 )

N • skin is normal at embryonic stages

pallor ( J:115742 )

• homozygotes have pale skin

abnormal tail pigmentation ( J:115742 )

• tails of homozygotes are lined

Genotype
MGI:3692773

hm2

• Allelic Composition: Ttc7^fsn-Jic/Ttc7^fsn-Jic
• Genetic Background: C3.INT-Ttc7^fsn-Jic

mortality/aging

postnatal lethality, complete penetrance ( J:115742 )

• Background Sensitivity: mean lifespan of affected mice is 11.6 days

growth/size/body

decreased body weight ( J:115742 )

• body weights are lower than wild-type controls

increased spleen weight ( J:115742 )

• at 10 days of age, spleen weight to body weight ratio is significantly higher than in wild-type (spleen weight = 32.8 mg vs 46.9 in controls)

hematopoietic system

decreased thymus weight ( J:115742 )

• at 10 days of age, thymus weight to body weight ratio is significantly lower than in wild-type (mutant thymus = 4.1 mg vs 46.9 mg in control)

increased spleen weight ( J:115742 )

• at 10 days of age, spleen weight to body weight ratio is significantly higher than in wild-type (spleen weight = 32.8 mg vs 46.9 in controls)

extramedullary hematopoiesis ( J:115742 )

• marked extramedullary hematopoiesis is observed in spleen and liver

anemia ( J:115742 )

• mice display severe anemia

abnormal erythrocyte morphology ( J:115742 )

• in neonates, a large number of red blood cells show abnormalities such as dacrocytes and acanthocytes

low mean erythrocyte cell number ( J:115742 )

• numbers of red blood cells is significantly decreased compared to wild-type at 10 days after birth

decreased hematocrit ( J:115742 )

• values are much lower than in normal mice

increased nucleated erythrocyte cell number ( J:115742 )

• number of nucleated cells is 35 times higher than in controls

acanthocytosis ( J:115742 )

• in neonates

dacryocytosis ( J:115742 )

• in neonates

thrombocytosis ( J:115742 )

• number of platelets is significantly increased compared to controls

increased spleen red pulp amount ( J:115742 )

• red pulp is increased in mutant spleens

decreased spleen white pulp amount ( J:115742 )

• spleens of mutants display markedly reduced white pulp

immune system

decreased thymus weight ( J:115742 )

• at 10 days of age, thymus weight to body weight ratio is significantly lower than in wild-type (mutant thymus = 4.1 mg vs 46.9 mg in control)

increased spleen weight ( J:115742 )

• at 10 days of age, spleen weight to body weight ratio is significantly higher than in wild-type (spleen weight = 32.8 mg vs 46.9 in controls)

increased spleen red pulp amount ( J:115742 )

• red pulp is increased in mutant spleens

decreased spleen white pulp amount ( J:115742 )

• spleens of mutants display markedly reduced white pulp

liver inflammation ( J:115742 )

• homozygous livers show hepatitis with inflammatory cell infiltrate

cardiovascular system

decreased heart weight ( J:115742 )

• at 10 days of age, heart weight to body weight ratio is significantly higher than in wild-type (heart weight = 38.9 mg vs 49.9 mg in controls)

liver/biliary system

liver inflammation ( J:115742 )

• homozygous livers show hepatitis with inflammatory cell infiltrate

liver hypoplasia ( J:115742 )

• cellularity of liver cortex is markedly reduced compared to control

pale liver ( J:115742 )

• liver is paler than in control

renal/urinary system

pale kidney ( J:115742 )

• kidney is paler than in control

integument

sparse hair ( J:115742 )

• sparse pelage is often seen in homozygotes

mixed cellular infiltration to dermis ( J:115742 )

• neutrophilic infiltration in epidermis with prominent dermal inflammatory infiltrates is observed in neonates

hyperkeratosis ( J:115742 )

• in affected neonates

parakeratosis ( J:115742 )

• focal parakeratosis is seen in neonates

acanthosis ( J:115742 )

• neonates show marked acanthosis

abnormal skin condition ( J:115742 )

• homozygotes have papulosquamous skin lesions

endocrine/exocrine glands

decreased thymus weight ( J:115742 )

• at 10 days of age, thymus weight to body weight ratio is significantly lower than in wild-type (mutant thymus = 4.1 mg vs 46.9 mg in control)

Genotype
MGI:3692772

hm3

• Allelic Composition: Ttc7^fsn-Jic/Ttc7^fsn-Jic
• Genetic Background: CBy.INT-Ttc7^fsn-Jic

mortality/aging

postnatal lethality, complete penetrance ( J:115742 )

• Background Sensitivity: mean lifespan of affected mice is 7.7 days

hematopoietic system

anemia ( J:115742 )

• homozygotes are severely anemic

integument

scaly skin ( J:115742 )

• skin of homozygotes is scaly

abnormal skin condition ( J:115742 )

• homozygotes have papulosquamous skin

Genotype
MGI:3692890

ht4

• Allelic Composition: Ttc7^fsn/Ttc7^fsn-Jic
• Genetic Background: involves: A/J * BALB/c * C57BL/6 * INT

mortality/aging

premature death ( J:115742 )

• mean life span of homozygotes is 67.2 days