Analysis Tools
endocrine/exocrine glands
| N |
• seminal vesicle defects seen in svs/svs mice are complemented by presence of functional Fgfr2 allele
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• seminal vesicle defects seen in svs/svs mice are complemented by presence of functional Fgfr2 allele
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• cell division at E8.75 according to mitotic marker p-HH3 immunoreactivity
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• according to TUNEL assay at E8.75
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• at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E12.5
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• reduction in size across A/P and D/V axes at E12.5
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• absent at E13.5 according to lack of Lhx8- and Nkx2-1-labeling of LGE region
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• absent at E13.5 according to lack of Lhx8- and Nkx2-1-labeling of MGE region
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• at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E12.5
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• reduction in size across A/P and D/V axes at E12.5
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• at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• cell survival and cell division at E8.75 according to mitotic marker p-HH3 immunoreactivity
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| N |
• brain morphology at E12.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in transepidermal water loss, indicating an epidermal barrier defect
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• increase in transepidermal water loss, indicating an epidermal barrier defect
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• all females are sterile
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• most males are sterile
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal early growth, size and shape of genital tubercles
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• abnormal maturation of urethral epithelium
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• small
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• reduced cell proliferation in genital mesenchyme
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P14, vesicles were highly clustered at synaptic site, but were abundant in preterminal portions
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is about a third reduction in the length of the small intestine at E18.5 compared to controls
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• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells
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• proliferation of fibroblasts found in the proximal and distal small intestine mesenchyme is significantly reduced at E18.5
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• premature crypt-like structures occur in the small intestine of E18.5 embryos before the appearance of paneth cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• underdeveloped from E11.5
• deficiency in proximodistal outgrowth at E12.5
• smaller in size at E15.5 with a lack in mesenchymal patterning
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• at E11.0, genital mesenchyme exhibits a reduction in cell proliferation compared with in wild-type mice
• however, apoptosis rates are normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• there is about a 15% reduction in the length of the small intestine at E18.5 compared to controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• severe facial clefting is seen
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| N |
• despite ubiquitous expression of these genes in the anterior of the embryo, no defects in outflow tract development are seen
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• severe facial clefting is seen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E10.5, many apoptotic (TUNEL+) cells are present in the very loose mesenchyme adjacent to the ureteric bud, unlike in controls
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• abnormally high rates of apoptosis are detected in mesenchyme dorsal to the initial ureteric bud at E10.5 and then in the rudimentary ureteric bud and Wolffian duct at E11.5
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• at E10.5, mice exhibit local areas of hypoproliferation (decreased BrdU uptake) in mesenchyme dorsal to the ureteric bud (where metanephric mesenchyme should be present)
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• at E10.5, mice exhibit no histologically recognizable condensing metanephric mesenchyme within the loose mesenchyme, unlike controls
• by E11.5, no definitive metanephric mesenchyme is seen around the unbranched ureteric buds, unlike in controls
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• mice exhibit total renal aplasia
• however, mice develop bladders and structures originating from intermediate mesoderm including ovaries, testes, Mullerian ducts, and ductus deferens
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• mice occasionally develop two initial ureteric buds from the Wolffian duct, unlike controls
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• failure of uteretic buds to branch by E11.5
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• by E11.5, ureteric buds fail to elongate or branch
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• mice occasionally develop an ectopic ureteric bud
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• a smaller ureteric bud is usually observed at E10.5 and E11.0
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• at E10.5, many apoptotic (TUNEL+) cells are present in the very loose mesenchyme adjacent to the ureteric bud, unlike in controls
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• abnormally high rates of apoptosis are detected in mesenchyme dorsal to the initial ureteric bud at E10.5 and then in the rudimentary ureteric bud and Wolffian duct at E11.5
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• at E10.5, mice exhibit local areas of hypoproliferation (decreased BrdU uptake) in mesenchyme dorsal to the ureteric bud (where metanephric mesenchyme should be present)
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• at E10.5, many apoptotic (TUNEL+) cells are present in the very loose mesenchyme adjacent to the ureteric bud, unlike in controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal-appearing kidneys after birth
• kidneys exhibit normal cortical and medullary structures at E16.5 and remain normal throughout embryonic development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal-appearing kidneys after birth
• kidneys exhibit normal cortical and medullary structures at E16.5 and remain normal throughout embryonic development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• despite disruption of vascular development mice survive to birth
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| N |
• despite ubiquitous expression of these genes in the anterior of the embryo, no defects in outflow tract development are seen
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• disruption of vascular development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• progressive loss of skin appendages
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• progressive hair loss such that mice are hairless by 1 month of age
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• mice develop epidermal hyperthickening combined with disorganization of the keratinocytes which progresses with age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit smaller hearts than mice homozygous for null alleles of Fgfr1 and Fgfr2 due to decreased myocardial proliferation
• however, coronary development is normal
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• mice exhibit thinner ventricular walls than mice homozygous for null alleles of Fgfr1 and Fgfr2
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type
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• impaired osteoblast proliferation
• no increase in osteoblast apoptosis
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• the mineral apposition rate (MAR) was undetectable at 3 and 4 weeks of age
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• characterized by reduced bone growth
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• mice were 40% to 50% smaller than wild-type controls at 4 weeks of age
• normal growth resumed but adult mice remained 30% to 40% smaller than wild-type controls
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• reduced length
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• the mineral apposition rate (MAR) was undetectable at 3 and 4 weeks of age
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• shortened appendicular skeleton
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• reduced length
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• 40% decrease in metaphyseal area due to a reduction in the trabecular zone length and width
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• shortened axial skeleton
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• observed in some mice
• non-ossified gap in the dorsal midline of both the cervical and thoracic vertebrae
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• bone mineral density was reduced in all mice
• though density increased with age, it remained decreased relative to that of wild-type
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• while osteoblast differentiation was not affected, osteogenic regions contained fewer osteoblasts due to impaired proliferation
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• several tarsal joins failed to develop, putatively due to a a failure of cavitation of the cartilaginous anlage prior to ossificiation of these bones
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• skeletal dwarfism and decreased bone density
• decreased amount of trabecular bone; in some cases it was absent
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• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type
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• reduced hypertrophic chondrocyte zone
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• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type
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• osteoclasts were more mature (larger) than in control mice, but osteoclast activity did not differ from that of wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• smaller than litter mate controls
• born in expected Mendelian numbers
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• at embryonic stages, vesicles were less concentrated at synaptic sites than in controls
• a similar defect was observed in neonates and during the first postnatal week
• the abnormality was transient and barely detectable by the third postnatal week
• neuromuscular junctions formed on schedule
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• keratinocyte proliferation is mildly increased at P18 and is strongly increased in the back and tail skin at 3 months of age
(J:158802)
• however, keratinocytes in vitro show normal proliferation rate
(J:158802)
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• transepidermal water loss is slightly increased at P18 and is significantly increased at 6 months of age, indicating disturbed epidermal barrier function
(J:158802)
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• progressive skin inflammation, with a 60% increase in epidermal gamma-delta T cells, an increase in mast cells in the dermis, and increase in CD45+ alpha-beta and gamma-delta T cells in the dermis
(J:158802)
• however, macrophage or neutrophil infiltrate is not seen
(J:158802)
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• loss of skin appendages
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• sebaceous glands are virtually absent in the back skin of older mice
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• progressive hair loss and mice are hairless by 2-4 months of age
(J:158802)
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• hair follicles are abnormally shaped at P18 (first telogen)
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• hair follicles are virtually absent in the back skin of older mice and only a few cysts are present in the dermis
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• hair follicles are smaller at P18 (first telogen), but numbers are normal
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• by P30, most follicles are in telogen compared to controls which have entered the second anagen
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• a mild hypotrophy of the epidermis is seen at P5 (first anagen), but the dermis and appendages appear normal
• mice show only a rudimentary development of tight junctions in the epidermis
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• bubble-like intercellular clefts between the keratinocytes of the stratum granulosum
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• mice develop epidermal hyperthickening combined with disorganization of the keratinocytes at 2-3 months of age which progresses with age
(J:158802)
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• fragile appearing skin
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• fibrosis develops in the dermis
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• sebaceous glands are virtually absent in the back skin of older mice
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• keratinocyte proliferation is mildly increased at P18 and is strongly increased in the back and tail skin at 3 months of age
(J:158802)
• however, keratinocytes in vitro show normal proliferation rate
(J:158802)
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• mast cells in young cells are degranulated, followed by a decrease in degranulated mast cells thereafter
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• increase in mast cell number between P7 and P9 is greater in mutants than in controls and remains high unlike in controls which show a decrease over time
• higher number of mast cell progenitors in the white adipose tissue
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• mice show enhanced levels of IgE in the dermis and in the serum
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• mice show enhanced levels of IgG1 in the dermis
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• mice show enhanced levels of IgG2a in the dermis
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• transepidermal water loss is slightly increased at P18 and is significantly increased at 6 months of age, indicating disturbed epidermal barrier function
(J:158802)
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• transient increase in mast cell chemokines in the epidermis and dermis
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• mast cells in young cells are degranulated, followed by a decrease in degranulated mast cells thereafter
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• increase in mast cell number between P7 and P9 is greater in mutants than in controls and remains high unlike in controls which show a decrease over time
• higher number of mast cell progenitors in the white adipose tissue
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• mice show enhanced levels of IgE in the dermis and in the serum
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• mice show enhanced levels of IgG1 in the dermis
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• mice show enhanced levels of IgG2a in the dermis
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• transient increase in mast cell chemokines in the epidermis and dermis
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• progressive skin inflammation, with a 60% increase in epidermal gamma-delta T cells, an increase in mast cells in the dermis, and increase in CD45+ alpha-beta and gamma-delta T cells in the dermis
(J:158802)
• however, macrophage or neutrophil infiltrate is not seen
(J:158802)
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• high consumption of drinking water
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• all females are infertile
(J:158802)
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• about 60% of males are infertile
(J:158802)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| atopic dermatitis | DOID:3310 |
OMIM:603165 OMIM:PS603165 |
J:221184 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• loss of sebaceous glands
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• loss of sebaceous glands
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• hair abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• E12.5 embryos are noticeably smaller than controls
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• E12.5 embryos are noticeably smaller than controls
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• apoptosis is expanded caudally in the bronchial epithelium compared to controls at E11.25
• widespread apoptosis occurs in the lung epithelium by E12.5 and is also observed in the lung mesenchyme
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• some E11.5 embryos have smaller lung branches with a bumpy, irregular
morphology
• by E12.5, irregular outgrowths have arisen along the entire length of both main bronchi of the mutant lungs with outgrowths concentrated more caudally
• mesenchymal protrusions without an accompanying epithelial branch are occasionally observed during embryonic development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E14.5, the presumptive lacrimal gland precursor remains a thin layer of epithelial cells with little proliferation and no budding unlike in wild-type mice
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• at E14.5, mutants never develop lacrimal buds
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• at E14.5, the presumptive lacrimal gland precursor remains a thin layer of epithelial cells with little proliferation and no budding unlike in wild-type mice
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• at E14.5, mutants never develop lacrimal buds
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• numbers of astrocytes reaching the cortex is significantly reduced compared to controls at P7
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show a subtle reduction in cortical size compared to control mice
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• numbers of astrocytes reaching the cortex is significantly reduced compared to controls at P7; greatest loss (60%) is in the upper cortical layers with 22% loss in the subcortical white matter
• there is an intermediate reduction (39%) in astrocte density was seen in the inferior cortical layers
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced numbers of glomeruli in both embryonic and adult kidneys
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• some adult mutants had hydronephrosis occurring unilaterally or bilaterally
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• E13.5 and E16.5 kidneys were smaller than controls
• many adult mutants had small, abnormally shaped kidneys
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• E11.5 ureteric bud explants had abnormally thin, long ureteric stalks and fewer peripheral tips, with a range in phenotype severity
• decrease in the mean number of ureteric bud tips on the surface of E16.5 kidneys
• range of ureteric bud defects at E16.5, including extremely small kidneys with large areas devoid of ureteric tissue
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal kidneys and no apparent renal abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 22% and 24% fewer glomeruli in E11.5 explants and adult kidneys, respectively
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• defects in cortical stromal mesenchyme patterning, showing aberrantly thickened stroma in subcapsular regions in E13.5 kidneys and regions of massive subcapsular apoptosis in stroma
• absent intercalated stripes of stromal cells in E13.5 kidneys
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• 20% of adult mutants had hydronephrosis occurring unilaterally or bilaterally
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• E13.5 and E16.5 kidneys were smaller than controls
• 80% of adult mutants had small, abnormally shaped kidneys
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• range of ureteric bud defects at E16.5, including extremely small kidneys with large areas devoid of ureteric tissue
• increased apoptotic nuclei in ureteric buds (2-3 apoptotic nuclei compared to none or just one in controls)
• decreased rates of proliferation in ureteric bud tips compared with controls
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• E11.5 ureteric bud explants exhibited aberrant branching and had abnormally thin, long ureteric stalks and fewer peripheral tips, with a range in phenotype severity
• decrease in the mean number of ureteric bud tips on the surface of E16.5 kidneys (89.5 versus 271 in control)
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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 04/30/2024 MGI 6.23 |
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