|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not exhibit a pigmentation defect
|
| N |
• newborn mice do not exhibit a thinned epidermis of the midline scalp
|
| N |
• newborn mice exhibit normal incisor formation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit smaller white belly patches than mice that are homozygous for Kctd15tm1c(EUCOMM)Wtsi and heterozygous for E2f1Tg(Wnt1-cre)2Sor
|
|
• mice exhibit smaller white belly patches than mice that are homozygous for Kctd15tm1c(EUCOMM)Wtsi and heterozygous for E2f1Tg(Wnt1-cre)2Sor
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit larger white belly patches than mice that are homozygous for Kctd15tm1c(EUCOMM)Wtsi and heterozygous for E2f1Tg(Wnt1-cre)2Sor
|
|
• mice exhibit larger white belly patches than mice that are homozygous for Kctd15tm1c(EUCOMM)Wtsi and heterozygous for E2f1Tg(Wnt1-cre)2Sor
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• newborns exhibit thin/eroded epidermis of the midline scalp
• a thinned epidermis with a flat Krt5+ basal layer overlying the interfrontal suture is noted at PO
|
|
• aplasia cutis congenita (ACC)-like lesions occur along abnormal interfrontal or sagittal sutures and show a thin epidermis with a flat Krt5+ basal layer
|
|
• at P0, mice show abnormal, overextended midline cranial sutures with a receded osteogenic front
|
|
• at P0, mice show an increased distance between frontal bones at the site where the interfrontal suture crosses with the coronal suture
|
|
• at P0, mice exhibit shortened frontal bones
|
|
• at P0, mice exhibit absence of mandibular and maxillary incisors
|
|
• absence of mandibular incisors at P0
|
|
• absence of maxillary incisors at P0
|
|
• newborns show congenital bone/suture defects of neural crest cell (NCC)-derived structures of the midline skull associated with overlying membranous aplasia cutis congenita (ACC)-like skin defects with epidermal thinning
• midline skull/suture defects likely cause ACC as a result of reduced spatiotemporal expression of keratinocyte-promoting growth factors at that site
|
|
• at P0, mice exhibit nasal airway abnormalities
• flat nasal structures are noted at E17.0
|
|
• microCT images show loss of nasal bones at P0
|
|
• at P0, mice exhibit diminished nasal bones
|
|
• at P0, mice exhibit diminished nasal cartilage
|
|
• at P0, mice display a cutaneous midline scalp mass consisting of heterotopic beta3-tubulin+ neuronal tissue, similar to heterotopic brain tissue observed at skin sites adjacent to membranous ACC lesions in patients
|
|
• open eyes with abnormal eyelids are noted at E17.0 and P0
|
|
• mice have open eyelids at P0
|
|
• at P0, mice show cardiac defects, including subaortic membranous ventricular septal defects (VSDs), an overriding aorta, and bicuspid aortic valves
|
|
• at PO, hearts show an overriding aorta
|
|
• mice exhibit congenital subaortic membranous VSDs
|
|
• at PO, hearts show bicuspid aortic valves
|
|
• at P0, mice exhibit absence of mandibular and maxillary incisors
|
|
• absence of mandibular incisors at P0
|
|
• absence of maxillary incisors at P0
|
|
• at P0, mice exhibit nasal airway abnormalities
• flat nasal structures are noted at E17.0
|
|
• microCT images show loss of nasal bones at P0
|
|
• at P0, mice exhibit diminished nasal bones
|
|
• at P0, mice exhibit diminished nasal cartilage
|
|
• newborns exhibit thin/eroded epidermis of the midline scalp; whole-mount Krt5 and ILB4 immunolabeling of scalp skin shows an aplasia cutis congenita (ACC)-like region
|
|
• at P0, mice show abnormal, overextended midline cranial sutures with a receded osteogenic front
|
|
• at P0, mice show an increased distance between frontal bones at the site where the interfrontal suture crosses with the coronal suture
|
|
• at P0, mice exhibit shortened frontal bones
|
|
• at P0, mice exhibit absence of mandibular and maxillary incisors
|
|
• absence of mandibular incisors at P0
|
|
• absence of maxillary incisors at P0
|
|
• microCT images show loss of nasal bones at P0
|
|
• at P0, mice exhibit diminished nasal bones
|
|
• at P0, mice exhibit diminished nasal cartilage
|
|
• at P0, mice show reduced ossification along the interfrontal and sagittal sutures and expanded non-ossified area at that site
|
|
• at P0, mice show delayed frontal bone ossification along the interfrontal suture
|
|
• at P0, mice delayed ossification of the interfrontal suture
|
|
• at P0, mice exhibit nasal airway abnormalities
• flat nasal structures are noted at E17.0
|
|
• microCT images show loss of nasal bones at P0
|
|
• at P0, mice exhibit diminished nasal bones
|
|
• at P0, mice exhibit diminished nasal cartilage
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice exhibit a white belly patch, a loss of pigmentation phenotype with absence of melanocytes that is pathognomonic for an NCC-derived melanoblast migration defect
|
|
• mice exhibit a white belly patch, a loss of pigmentation phenotype with absence of melanocytes that is pathognomonic for an NCC-derived melanoblast migration defect
|
| N |
• mice do not exhibit any cardiac abnormalities at PO
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice treated with tamoxifen at 3 months of age show no significant increase in blood urea nitrogen (BUN) levels at 11 months of age, indicating normal kidney function
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• adult mice exhibit normal kidney morphology relative to controls
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at 2-4 months of age, mice exhibit normal kidney morphology with no alterations in blood urea nitrogen (BUN) levels relative to controls, indicating normal kidney function
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at 2-4 months of age, mice exhibit normal kidney morphology with no alterations in blood urea nitrogen (BUN) levels relative to controls, indicating normal kidney function
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• at 2-4 months of age, mice exhibit normal kidney morphology with no alterations in blood urea nitrogen (BUN) levels relative to controls, indicating normal kidney function
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are significantly smaller than controls at P7
|
|
• mice are born with normal body weight but develop a postnatal growth retardation
|
|
• tail skin shows markedly reduced sebaceous glands by 8 months of age
• adult footpad skin shows diminished sebaceous glands
|
|
• adult foot pad skin shows strongly reduced eccrine sweat gland numbers
|
|
• mice exhibit anhidrosis
|
|
• mice show structural hair abnormalities
|
|
• mice exhibit a delay in hair growth at P7
|
|
• at P21, mice have a sparser fur coat and patches with reduced hair on the upper back
• adult mice show a generalized sparseness of the fur coat by 8 months of age
• however, no aplasia cutis congenita (ACC)-like lesions are observed
|
|
• at 3 weeks of age, back skin shows structural hair shaft abnormalities
• at 8 months of age, tail skin shows abnormal hairs
|
|
• at P4, skin shows abnormal and shorter hair follicles
• at 3 weeks of age, tail skin shows hair follicles with flattened scale/interscale junctions
|
|
• at P4, skin shows shorter hair follicles
|
|
• mice show abnormal whisker hair follicles
|
|
• at P4 and P13, mice exhibit curly whiskers
|
|
• mice exhibit a delay in skin maturation
|
|
• adult foot pad skin shows strongly reduced eccrine sweat gland numbers
|
|
• at P4, mice exhibit a delay in interdigital web space formation
|
|
• at P13, mice exhibit a delay in eyelid opening
|
|
• tail skin shows markedly reduced sebaceous glands by 8 months of age
• adult footpad skin shows diminished sebaceous glands
|
|
• adult foot pad skin shows strongly reduced eccrine sweat gland numbers
|
|
• mice exhibit anhidrosis
|
| N |
• mice exhibit normal incisor formation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| scalp-ear-nipple syndrome | DOID:0111550 |
OMIM:181270 |
J:344153 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not exhibit an apparent skin or hair phenotype
|
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 07/05/2024 MGI 6.24 |
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