Phenotypes associated with this allele

• Allele Symbol: Ttc7^fsn
• Allele Name: flaky skin
• Allele ID: MGI:1856879
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ttc7^fsn/Ttc7^fsn	CByJ.A-Ttc7^fsn	MGI:3055917
hm2	Ttc7^fsn/Ttc7^fsn	CByJ.A-Ttc7^fsn/J	MGI:3692886
hm3	Ttc7^fsn/Ttc7^fsn	involves: A/J	MGI:3690629
hm4	Ttc7^fsn/Ttc7^fsn	involves: A/J * BALB/cByJ	MGI:4366162
ht5	Ttc7^fsn/Ttc7^fsn-Jic	involves: A/J * BALB/c * C57BL/6 * INT	MGI:3692890

Genotype
MGI:3055917

hm1

• Allelic Composition: Ttc7^fsn/Ttc7^fsn
• Genetic Background: CByJ.A-Ttc7^fsn

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

cardiovascular system

enlarged heart ( J:29200 )

digestive/alimentary system

abnormal stomach epithelium morphology ( J:30519 )

• develops papillomatous lesions between glandular and nonglandular junction of stomach

growth/size/body

enlarged heart ( J:29200 )

decreased body weight ( J:29200 )

• in adult

enlarged liver ( J:29200 )

enlarged spleen ( J:29200 , J:30519 )

• lack of prominent white pulp follicular pattern (J:29200)

• potbelly appearance (J:30519)

hematopoietic system

thymus cortex hypoplasia ( J:29200 )

small thymus ( J:29200 )

• reduction in males not females

enlarged spleen ( J:29200 , J:30519 )

• lack of prominent white pulp follicular pattern (J:29200)

• potbelly appearance (J:30519)

abnormal erythropoiesis ( J:92699 )

• elevated numbers of smudge cells in peripheral circulation

extramedullary hematopoiesis ( J:92699 )

• in liver and spleen

anemia ( J:30519 , J:92699 )

• mild anemia at birth (J:30519)

• severity increases with age (J:30519)

• iron supplemented diet reverses condition (J:92699)

low mean erythrocyte cell number ( J:92699 )

decreased hematocrit ( J:92699 )

decreased hemoglobin content ( J:92699 )

decreased mean corpuscular volume ( J:92699 )

• microcytic red blood cells

homeostasis/metabolism

abnormal mineral level ( J:92699 )

• elevation in zinc protoporphyrin

abnormal iron level ( J:92699 )

• reduction in tissue iron storage between 1 week and 5 weeks of age

abnormal circulating iron level ( J:92699 )

• increase in serum iron levels by 7 days, however, decrease by six weeks in comparison to wildtype

• elevation (3-fold) in transferrin levels in adult

immune system

thymus cortex hypoplasia ( J:29200 )

small thymus ( J:29200 )

• reduction in males not females

enlarged spleen ( J:29200 , J:30519 )

• lack of prominent white pulp follicular pattern (J:29200)

• potbelly appearance (J:30519)

liver/biliary system

enlarged liver ( J:29200 )

integument

alopecia ( J:30519 )

• patchy

abnormal dermal layer morphology ( J:30519 )

• dilated dermal capillaries

mixed cellular infiltration to dermis ( J:30519 )

• dermal inflammatory cell infiltrate

• keratohyalin abnormalities detected using immunohistochemical profilaggrin staining include numerous macrophages and mast cells at the dermal-epidermal junction in close proximity to focal dissolutions of the basement membrane (basement membrane herniations), a group of ultrastructural aberrations typically found in human psoriasis vulgaris

abnormal epidermal layer morphology ( J:30519 )

hyperkeratosis ( J:30519 )

• thickening after first week

orthokeratosis ( J:30519 )

parakeratosis ( J:30519 )

• focal parakeratosis

abnormal epidermis stratum granulosum morphology ( J:30519 )

• prominent stratum granulosum

acanthosis ( J:30519 )

• diffuse

epidermal hyperplasia ( J:30519 )

flaky skin ( J:30519 )

pallor ( J:30519 )

• identified at birth by pale color

scaly skin ( J:30519 )

• fine scale progresses to thick white flakes

• ventral abdomen develops fine scale and banding pattern of thinning hair

skin lesions ( J:30519 )

• progressive

endocrine/exocrine glands

thymus cortex hypoplasia ( J:29200 )

small thymus ( J:29200 )

• reduction in males not females

Genotype
MGI:3692886

hm2

• Allelic Composition: Ttc7^fsn/Ttc7^fsn
• Genetic Background: CByJ.A-Ttc7^fsn/J

mortality/aging

premature death ( J:115742 )

• mean life span of homozygotes is 97.8 days

Genotype
MGI:3690629

hm3

• Allelic Composition: Ttc7^fsn/Ttc7^fsn
• Genetic Background: involves: A/J

digestive/alimentary system

abnormal forestomach morphology ( J:2777 )

• forestomach epithelial thickness is significantly greater than wild-type

• forestomach shows marked exophytic papillary folding with massive production of laminated cornified cells on lumenal surface

abnormal stomach mucosa morphology ( J:2777 )

• infiltrates of inflammatory cells in lamina propria causes separation of gastric pits and formation of nest-like glandular structures

abnormal stomach epithelium morphology ( J:2777 )

• forestomach is significantly thicker (200 um) than controls (37 um)

abnormal stomach non-glandular epithelium morphology ( J:2777 )

• consists of tortuous gastric pits with many short columnar cells with basilar nuclei

stomach inflammation ( J:2777 )

• mild to moderate mixed inflammatory infiltrates are found in lamina propria throughout stomach

hematopoietic system

anemia ( J:2777 )

• packed cell volumes (PCVs) are 22.6 compared to ~45 for controls

immune system

stomach inflammation ( J:2777 )

• mild to moderate mixed inflammatory infiltrates are found in lamina propria throughout stomach

neoplasm

increased papilloma incidence ( J:2777 )

• mice develop gastric papillomas, with greater frequency than controls

Genotype
MGI:4366162

hm4

• Allelic Composition: Ttc7^fsn/Ttc7^fsn
• Genetic Background: involves: A/J * BALB/cByJ

integument

abnormal hair shaft morphology ( J:29609 )

• SEM shows pits, striations, and exophytic protrusions typify hair shaft appearance

abnormal hair cuticle ( J:29609 )

• all hair types exhibit irregularities in the cuticular scales

abnormal nail morphology ( J:29609 )

• nails are bent at a 90 degree angle, have surface irregularities with accumulation of scale at the nail base

deformed nails ( J:29609 )

abnormal epidermal layer morphology ( J:29609 )

• layer is abnormally thick and TEM images show an infiltration of neutrophils

increased dendritic epidermal T cell number ( J:14506 )

• numbers of Thy-1+ dendritic epidermal cells are elevated at all ages in the epidermal sheets from the ear and overall increased, though varied at different ages, in the epidermal sheets from the foot pad

• numbers of Asialo-GM1+ cells are increased in the dorsal skin at all ages, with major increases between 2 and 4 weeks of age

abnormal keratohyalin granule morphology ( J:29609 )

hypergranulosis ( J:29609 )

• Background Sensitivity: can be modulated by genetic background; not typical of an A/J background

abnormal keratinocyte morphology ( J:29609 )

• TEM images show mitochondrial abnormalities

thick epidermis ( J:14506 , J:29609 )

• epidermis increases in thickness through 4 weeks of age and remains thick over 8 weeks (J:14506)

hematopoietic system

increased dendritic epidermal T cell number ( J:14506 )

• numbers of Thy-1+ dendritic epidermal cells are elevated at all ages in the epidermal sheets from the ear and overall increased, though varied at different ages, in the epidermal sheets from the foot pad

• numbers of Asialo-GM1+ cells are increased in the dorsal skin at all ages, with major increases between 2 and 4 weeks of age

increased Langerhans cell number ( J:14506 )

• numbers of Langerhans cells are increased at all ages in epidermal sheets from ears, increased after 4 weeks of age in the epidermal sheets from foot pads, and elevated after 3 weeks in the dorsal skin

immune system

increased dendritic epidermal T cell number ( J:14506 )

• numbers of Thy-1+ dendritic epidermal cells are elevated at all ages in the epidermal sheets from the ear and overall increased, though varied at different ages, in the epidermal sheets from the foot pad

• numbers of Asialo-GM1+ cells are increased in the dorsal skin at all ages, with major increases between 2 and 4 weeks of age

increased Langerhans cell number ( J:14506 )

• numbers of Langerhans cells are increased at all ages in epidermal sheets from ears, increased after 4 weeks of age in the epidermal sheets from foot pads, and elevated after 3 weeks in the dorsal skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
psoriasis		DOID:8893	OMIM:PS177900	J:14506

Genotype
MGI:3692890

ht5

• 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