homeostasis/metabolism
• during the early and middle phases of wound healing, mice exhibit reduced formation and vascularization of granulation tissue compared with control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• during the early and middle phases of wound healing, mice exhibit reduced formation and vascularization of granulation tissue compared with control mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice die within 5 to 8 hours of birth
|
• at birth mice loss weight rapidly likely due to severe transepithelial water loss without lipophilic barrier dysfunction
|
• at E18.5
|
• the interfollicular epidermis exhibits an immature phenotype with fewer and smaller keratohyalin granules in the stratum granulosum and immature non-scaling stratum corneum and parakeratosis compared with wild-type mice
|
• at E18.5
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice are born at Mendelian frequency and survive for over 2 years
|
N |
• keratinocytes exhibit normal proliferation
• mice exhibit normal skin and hair
|
• keratinocytes exhibit an increase in misshapen cell nuclei and nuclear blebs in culture compared with wild-type cells
• however, no polyploidy is observed
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice are born at Mendelian frequency and survive for over 2 years
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice are born at Mendelian frequency and survive for over 2 years
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice reach adulthood without showing inflammatory skin lesions
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• at birth, some mice resemble Chuktm1Mpa homozygotes
|
• some mice exhibit epidermal hyperplasia after birth
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• normal circulating inflammatory cytokine and chemokine levels
|
N |
• no dermatitis and normal epidermal thickness up to age older than 40 weeks
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• normal circulating inflammatory cytokine and chemokine levels in most mice
|
• delineated inflamed skin lesions from age 6 weeks in some mice
|
N |
• no skin lesions and normal epidermal thickness in most mice
|
• delineated inflamed skin lesions from age 6 weeks in some mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice reach adulthood without showing inflammatory skin lesions
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• at P7
• skin lesions progressively develop to severe skin inflammation by 4 weeks
|
• at P7
|
• milder at P7 than in Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
• skin lesions progressively develop to severe skin inflammation by 4 weeks
|
• at P7
• skin lesions progressively develop to severe skin inflammation by 4 weeks
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• pups die within a few hours of birth
|
• free fatty acids and ceramide content are decreased in the outer layer of the epidermis
|
• skin on the limbs, tail and parts of the head show increased permeability
• however, skin on the body does not show increased permeability
|
• cholesterol levels are mildly increased in the outer layer of the epidermis
|
• mice loose as much as 5% of their weight within 3 hours of birth
|
N |
• in contrast to Chuktm1.1Mpa homozygotes, mice do not have any skeletal abnormalities
|
• skin on the limbs, tail and parts of the head show increased permeability
• however, skin on the body does not show increased permeability
|
• epidermis had increased vascularisation
• blood vessel diameter is increased within the epidermis
|
• primary keratinocytes do not differentiate in medium with increased calcium
• however, keratinocytes differentiate normally in vivo
|
• free fatty acids and ceramide content are decreased in the outer layer of the epidermis
• lipid composition within the stratum corneum is altered resulting in defective epidermal barrier and increased transepidermal water loss
|
• at birth skin is shiny, sticky and taut
|
• primary keratinocytes do not differentiate in medium with increased calcium
• however, keratinocytes differentiate normally in vivo
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• delineated inflamed skin lesions on back
|
• delineated inflamed skin lesions on back
|
• delineated inflamed skin lesions on back
|
• verrucous carcinomas on back skin
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• pups die within a few hours after birth
|
• slightly reduced body size
|
• none of the pups contain milk in their stomachs
|
• marker analysis indicates disturbed epidermal differentiation of the epidermis
|
• newborns show severe functional impairment of the epidermal barrier
|
• reduction of hair follicles down to 81% that of wild-type mice
|
• skin shows decreased deposition of neutral lipids and glucosylceramide in the epidermis
|
• marker analysis indicates disturbed epidermal differentiation of the epidermis
|
• corneocytes appear inhomogeneously filled with remnants of nondegraded organelles and electron-lucent vesicle-like structures compared to homogenously filled wild-type corneocytes
|
• stratum corneum is thickened and its structure is condensed
|
• the basket-like structure of the stratum granulosum is condensed in the epidermis
|
• reduction of lamellar body contents in the epidermis
• diminished formation, maturation, and secretion of lamellar bodies
|
• the number of profilaggrin containing keratohyalin granules in the upper stratum granulosum is decreased in the epidermis
|
• mice exhibit a congenital ichtyotic phenotype
|
• skin is taut
|
• marker analysis indicates disturbed epidermal differentiation of the epidermis
|
• newborns show severe functional impairment of the epidermal barrier
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
CEDNIK syndrome | DOID:0060337 |
OMIM:609528 |
J:236759 |
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• normal circulating inflammatory cytokine levels
|
N |
• no skin lesions and normal epidermal thickness
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• delineated inflamed skin lesions on back
• no skin lesions in tail
|
N |
• no skin lesions and normal epidermal thickness in tail
|
• delineated inflamed skin lesions on back
• no skin lesions in tail
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• increased hair follicle stem cell (HFSC) and interfollicular epidermis (IFE) cell apoptosis
|
• in both skin lesions and non-lesional skin at age 7 weeks
|
• hyperproliferation
• accelerated wound closure at day 2 and 4 post-wounding
• decelerated wound closure at day 8 post-wounding
|
• hypersebacea at age 7 weeks
|
• at wound sites after completion of re-epithelialization
|
• of back and tail skin lesions at age 7 weeks
• normal in non-lesional skin
|
• delineated inflamed skin lesions on back and tail from age P6 onwards
• infiltration of immune cells into lesional skin
|
• of back and tail skin lesions at age 7 weeks
• normal epidermal thickness of non-lesional skin
|
• tumor-like lesions at wound sites after completion of re-epithelialization
|
• delineated inflamed skin lesions on back and tail from age P6 onwards
|
• verrucous carcinoma developed from back and tail skin lesions
|
• verrucous carcinoma developed from back and tail skin lesions
|
• delineated inflamed skin lesions on back and tail from age P6 onwards
• infiltration of immune cells into lesional skin
|
• increased hair follicle stem cell (HFSC) and interfollicular epidermis (IFE) cell apoptosis
|
• in both skin lesions and non-lesional skin at age 7 weeks
|
• hyperproliferation
• accelerated wound closure at day 2 and 4 post-wounding
• decelerated wound closure at day 8 post-wounding
|
• hypersebacea at age 7 weeks
|
• of back and tail skin lesions at age 7 weeks
• normal in non-lesional skin
|
• at wound sites after completion of re-epithelialization
|
N |
• born at normal Mendelian ratios
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice survive to adulthood
|
• delayed onset and decelerated development compared with Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
• mild inflammation at 7 weeks
• cutaneous inflammation of variable degree on the abdomen, flanks and throat at 14 weeks
|
• at P8, milder than in Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
|
• delayed onset and decelerated development compared with Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
|
• delayed onset and decelerated development compared with Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
• mild inflammation at 7 weeks
• cutaneous inflammation of variable degree on the abdomen, flanks and throat at 14 weeks
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• severe inflammation requiring euthanasia by P25 in some mice
|
• delayed onset and decelerated development compared with Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
|
• delayed onset and decelerated development compared with Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
|
• delayed onset and decelerated development compared with Ikbkbtm1Cgn/Ikbkbtm1Cgn Tg(KRT14-cre)1Cgn
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice show increased incidence of DMBA and TPA-induced papillomas compared to wild-type mice and homozygotes
• 3 of 30 DMBA and TPA treated mice develop squamous cell carcinomas which are not seen in treated controls
• DMBA and TPA treated mice show an increase in the number of melanomas at 15 weeks compared to wild-type, with mice developing both small and large melanoma lesions after 21 weeks of TPA treatment compared to only small lesions in wild-type mice
|
• 6 of 33 DMBA/TPA-treated mice show pigmentation in a number of inguinal lymph nodes, suggesting metastatic melanoma
|
• DMBA and TPA treated mice show an increase in the development of papillomas at 13 and 15 weeks, but not weeks 18 and 21, indicating a decrease in latency of papilloma development
|
• mice show increased incidence of DMBA and TPA-induced papillomas compared to wild-type mice and homozygotes
• 3 of 30 DMBA and TPA treated mice develop squamous cell carcinomas which are not seen in treated controls
• DMBA and TPA treated mice show an increase in the number of melanomas at 15 weeks compared to wild-type, with mice developing both small and large melanoma lesions after 21 weeks of TPA treatment compared to only small lesions in wild-type mice
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• psoriasis-like skin inflammation
• inflammatory infiltrate consists mainly of macrophages and dendritic cells rather than CD3+ T lymphocytes
|
• psoriasis-like skin inflammation
• inflammatory infiltrate consists mainly of macrophages and dendritic cells rather than CD3+ T lymphocytes
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• before P9
|
• severe
|
• severe
|
• severe
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• mice show similar development of DMBA and TPA-induced papillomas as wild-type mice, with no development of squamous cell carcinoma
• mice show a similar incidence of DMBA/TPA-induced cutaneous melanomas as wild-type mice
|
• DMBA and TPA treated mice develop larger melanoma lesions than wild-type mice after 21 weeks of TPA treatment
|
N |
• mice exhibit normal food consumption
|
|
|
♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• compromised epidermal barrier function at postnatal day 21
|
• greasy and tousled appearance identical to that in homozygous germ line null mice
|
• elevated lypolysis in isolated inguinal WAT
|
• compromised epidermal barrier function at postnatal day 21
|
• greater accumulation of cholesteryl esters at P21
• accumulation is less than in homozygous germ line null mice
|
• greater accumulation of cholesteryl esters at P21
• accumulation is less than in homozygous germ line null mice
|
• expression analysis in fostered pups indicates a defect in liver adaptation to weaning
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 11/12/2024 MGI 6.24 |
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