All Phenotypes Nedd4<Gt(XA209)Byg> MGI Mouse

preweaning lethality, complete penetrance ( J:207675 )

• no mice are present at weaning

perinatal lethality, complete penetrance ( J:143560 , J:207675 )

• mice die at birth (J:143560)

• mice die shortly after birth (J:207675)

• however, mice are present in normal ratios at E12.5 to E18.5 (J:207675)

increased embryonic neuroepithelium apoptosis ( J:203994 )

• at E8.5, cell death is increased by 2-fold in the neuroepithelial precursors of NC cells in the dorsal neural tube

decreased T cell proliferation ( J:143560 )

• following antigen stimulation in fetal liver chimeras, T cell proliferation is less than in similarly treated wild-type chimeras

• however, treatment with IL-2 results in normal proliferation rates

decreased fibroblast proliferation ( J:207675 )

• reduced mitogenic activity in mouse embryonic fibroblasts

abnormal neural crest cell physiology ( J:203994 )

• although cranial NC cells are initially specified and delaminate from the neural tube normally, they progressively lose their NC survival factors and self-renewal capacity after leaving the neural tube and aberrantly apoptose

increased cranial neural crest cell apoptosis ( J:203994 )

• cranial NC cells form normally but undergo apoptosis during migration away from the neural tube

• at E8.5, cell death is increased by 6-fold in cranial NC cells below the forebrain, midbrain and hindbrain in regions corresponding to the frontonasal, maxillary and mandibular prominences

• at E9.5, increased cell death is detected in the facial primordia; co-staining with p75 identified apoptotic cells within migrating NC cells and in regions adjacent to the stream of NC cells emanating from r1 and r2

decreased B cell number ( J:143560 )

• in fetal liver chimeras, the percentage of B cell and CD11b+ cells in the lymph nodes and spleens is slightly lower than in wild-type chimeras

increased T cell number ( J:143560 )

• in fetal liver chimeras, the number of T cells in the spleen is larger than in wild-type chimeras

increased CD4-positive, alpha-beta T cell number ( J:143560 )

• in fetal liver chimeras, the percentage of CD4+ and CD8+ cells in the lymph nodes and spleens is increased compared to in wild-type chimeras

increased CD8-positive, alpha-beta T cell number ( J:143560 )

• in fetal liver chimeras, the percentage of CD4+ and CD8+ cells in the lymph nodes and spleens is increased compared to in wild-type chimeras

decreased IgG1 level ( J:143560 )

• fetal liver chimeras exhibit decreased IgG1, IgG2 (a and b) and IgG3 both pre- and post-immunization compared to wild-type chimeras

decreased IgG2b level ( J:143560 )

• fetal liver chimeras exhibit decreased IgG1, IgG2 (a and b) and IgG3 both pre- and post-immunization compared to wild-type chimeras

decreased IgG3 level ( J:143560 )

• fetal liver chimeras exhibit decreased IgG1, IgG2 (a and b) and IgG3 both pre- and post-immunization compared to wild-type chimeras

increased IgM level ( J:143560 )

• in fetal liver chimeras following immunization

abnormal T cell activation ( J:143560 )

• in fetal liver chimeras, more T cells have a naive T cell phenotype than in wild-type chimeras indicating a defect in T cell activation

decreased T cell proliferation ( J:143560 )

• following antigen stimulation in fetal liver chimeras, T cell proliferation is less than in similarly treated wild-type chimeras

• however, treatment with IL-2 results in normal proliferation rates

decreased interleukin-2 secretion ( J:143560 )

• in T cells from fetal liver chimeras that were cultured with anti-CD3 and anti-CD28

increased embryonic neuroepithelium apoptosis ( J:203994 )

• at E8.5, cell death is increased by 2-fold in the neuroepithelial precursors of NC cells in the dorsal neural tube

decreased cranial neural crest cell number ( J:203994 )

• at E8.5-E9.5, all embryos show a marked reduction in the number of Sox10 and p75 positive cells in the facial primordia, esp. in the frontonasal, maxillary and distal mandibular prominences, and in the stream of NC cells emanating from rhombomeres r1 and r2 that give rise to the trigeminal ganglia

• at E9.5, Sox10 expression is reduced in the r2/r4 NC streams and otic vesicle, with no detectable differences in caudal regions of the embryo; transverse sections showed a reduction of NC cells in anterior regions at E8.5 and in the mandibular prominence at E9.0

• P75 staining showed marked reductions of NC cells in the r2 stream but almost normal levels of NC cells in the r4 stream at E9.5

• however, cranial NC cell specification and NC cell proliferation are normal and no defects in midbrain/hindbrain segmentation or patterning are observed

abnormal cranial ganglia morphology ( J:203994 )

• at E10.5, facioacoustic (vii/iii) ganglia are reduced in size but show no gross defects

abnormal glossopharyngeal ganglion morphology ( J:203994 )

• at E10.5, glossopharyngeal ganglia are reduced in size but show no gross defects

small trigeminal ganglion ( J:203994 )

• at E10.5, all embryos exhibit severely hypoplastic trigeminal ganglia that are less than half the size of those in control embryos

abnormal vagus ganglion morphology ( J:203994 )

• at E10.5, vagal ganglia are reduced in size but show no gross defects

decreased B cell number ( J:143560 )

• in fetal liver chimeras, the percentage of B cell and CD11b+ cells in the lymph nodes and spleens is slightly lower than in wild-type chimeras

increased T cell number ( J:143560 )

• in fetal liver chimeras, the number of T cells in the spleen is larger than in wild-type chimeras

increased CD4-positive, alpha-beta T cell number ( J:143560 )

• in fetal liver chimeras, the percentage of CD4+ and CD8+ cells in the lymph nodes and spleens is increased compared to in wild-type chimeras

increased CD8-positive, alpha-beta T cell number ( J:143560 )

• in fetal liver chimeras, the percentage of CD4+ and CD8+ cells in the lymph nodes and spleens is increased compared to in wild-type chimeras

decreased IgG1 level ( J:143560 )

• fetal liver chimeras exhibit decreased IgG1, IgG2 (a and b) and IgG3 both pre- and post-immunization compared to wild-type chimeras

decreased IgG2b level ( J:143560 )

• fetal liver chimeras exhibit decreased IgG1, IgG2 (a and b) and IgG3 both pre- and post-immunization compared to wild-type chimeras

decreased IgG3 level ( J:143560 )

• fetal liver chimeras exhibit decreased IgG1, IgG2 (a and b) and IgG3 both pre- and post-immunization compared to wild-type chimeras

increased IgM level ( J:143560 )

• in fetal liver chimeras following immunization

abnormal T cell activation ( J:143560 )

• in fetal liver chimeras, more T cells have a naive T cell phenotype than in wild-type chimeras indicating a defect in T cell activation

decreased T cell proliferation ( J:143560 )

• following antigen stimulation in fetal liver chimeras, T cell proliferation is less than in similarly treated wild-type chimeras

• however, treatment with IL-2 results in normal proliferation rates

delayed muscle development ( J:207675 )

• of superficial skeletal muscle in newborn mice

increased variability of skeletal muscle fiber size ( J:207675 )

• in newborn mice

centrally nucleated skeletal muscle fibers ( J:207675 )

• in newborn mice

abnormal neural crest cell physiology ( J:203994 )

• although cranial NC cells are initially specified and delaminate from the neural tube normally, they progressively lose their NC survival factors and self-renewal capacity after leaving the neural tube and aberrantly apoptose

increased cranial neural crest cell apoptosis ( J:203994 )

• cranial NC cells form normally but undergo apoptosis during migration away from the neural tube

• at E8.5, cell death is increased by 6-fold in cranial NC cells below the forebrain, midbrain and hindbrain in regions corresponding to the frontonasal, maxillary and mandibular prominences

• at E9.5, increased cell death is detected in the facial primordia; co-staining with p75 identified apoptotic cells within migrating NC cells and in regions adjacent to the stream of NC cells emanating from r1 and r2

decreased embryo size ( J:203994 , J:207675 )

• at E10.5, embryos are smaller than control embryos (J:203994)

• at E12.5 (J:207675)

decreased cranial neural crest cell number ( J:203994 )

• at E8.5-E9.5, all embryos show a marked reduction in the number of Sox10 and p75 positive cells in the facial primordia, esp. in the frontonasal, maxillary and distal mandibular prominences, and in the stream of NC cells emanating from rhombomeres r1 and r2 that give rise to the trigeminal ganglia

• at E9.5, Sox10 expression is reduced in the r2/r4 NC streams and otic vesicle, with no detectable differences in caudal regions of the embryo; transverse sections showed a reduction of NC cells in anterior regions at E8.5 and in the mandibular prominence at E9.0

• P75 staining showed marked reductions of NC cells in the r2 stream but almost normal levels of NC cells in the r4 stream at E9.5

• however, cranial NC cell specification and NC cell proliferation are normal and no defects in midbrain/hindbrain segmentation or patterning are observed

abnormal craniofacial morphology ( J:203994 )

• at E15.5, all fetuses exhibit severe craniofacial defects

abnormal craniofacial bone morphology ( J:203994 )

• at E17.5, many cranial bones are either absent or severely hypoplastic; cranial bones of neural crest (NC) cell origin are affected more than bones of paraxial mesoderm origin

• at E12.5, serial frontal sections through the head show only minimal mRNA expression of Runx2 (runt related transcription factor 2), indicating that induction of bone tissue is severely affected; defect in bone formation is also seen at E15.5 and E17.5

• however, formation of cartilage, including the nasal capsule, Meckel's cartilage, otic capsule and frontal cartilage, is nearly normal

small basioccipital bone ( J:203994 )

• at E17.5

abnormal frontal bone morphology ( J:203994 )

• at E17.5, all or part of the frontal bone is absent; bone density is reduced

small exoccipital bone ( J:203994 )

• at E17.5

abnormal temporal bone tympanic part morphology ( J:203994 )

• at E17.5, all or part of the tympanic bone is absent; bone density is reduced

abnormal mandible morphology ( J:203994 )

• at E17.5, the mandible is grossly defective and shows reduced bone density

• however, cartilage induction in the mandibular region is normal at E12.5 as indicated by Sox9 protein expression, and normal cartilage formation is seen at E15.5 and E17.5

small mandible ( J:203994 )

abnormal maxilla morphology ( J:203994 )

• at E17.5, the maxilla is grossly defective and shows reduced bone density

• however, cartilage induction in the maxillary region is normal at E12.5 as indicated by Sox9 protein expression, and normal cartilage formation is seen at E15.5 and E17.5

abnormal premaxilla morphology ( J:203994 )

• at E17.5, all or part of the premaxillary bone is absent; bone density is reduced

small maxilla ( J:203994 )

absent palate bones ( J:203994 )

• at E17.5, the palatal bone is absent

palatal shelves fail to meet at midline ( J:203994 )

• palatal shelves fail to fuse at E15.5

prominent forehead ( J:203994 )

• at E15.5, all fetuses show a pronounced forehead

cleft palate ( J:203994 )

• at E15.5, frontal sections through the head revealed cleft palate

abnormal tongue position ( J:203994 )

• at E15.5, the tongue is displaced from the oral cavity

absent palate bones ( J:203994 )

• at E17.5, the palatal bone is absent

palatal shelves fail to meet at midline ( J:203994 )

• palatal shelves fail to fuse at E15.5

prominent forehead ( J:203994 )

• at E15.5, all fetuses show a pronounced forehead

cleft palate ( J:203994 )

• at E15.5, frontal sections through the head revealed cleft palate

abnormal tongue position ( J:203994 )

• at E15.5, the tongue is displaced from the oral cavity

decreased embryo size ( J:203994 , J:207675 )

• at E10.5, embryos are smaller than control embryos (J:203994)

• at E12.5 (J:207675)

decreased birth weight ( J:207675 )

decreased fetal size ( J:207675 )

• at E18.5

decreased fetal weight ( J:207675 )

• at E18.5

abnormal craniofacial bone morphology ( J:203994 )

• at E17.5, many cranial bones are either absent or severely hypoplastic; cranial bones of neural crest (NC) cell origin are affected more than bones of paraxial mesoderm origin

• at E12.5, serial frontal sections through the head show only minimal mRNA expression of Runx2 (runt related transcription factor 2), indicating that induction of bone tissue is severely affected; defect in bone formation is also seen at E15.5 and E17.5

• however, formation of cartilage, including the nasal capsule, Meckel's cartilage, otic capsule and frontal cartilage, is nearly normal

small basioccipital bone ( J:203994 )

• at E17.5

abnormal frontal bone morphology ( J:203994 )

• at E17.5, all or part of the frontal bone is absent; bone density is reduced

small exoccipital bone ( J:203994 )

• at E17.5

abnormal temporal bone tympanic part morphology ( J:203994 )

• at E17.5, all or part of the tympanic bone is absent; bone density is reduced

abnormal mandible morphology ( J:203994 )

• at E17.5, the mandible is grossly defective and shows reduced bone density

• however, cartilage induction in the mandibular region is normal at E12.5 as indicated by Sox9 protein expression, and normal cartilage formation is seen at E15.5 and E17.5

small mandible ( J:203994 )

abnormal maxilla morphology ( J:203994 )

• at E17.5, the maxilla is grossly defective and shows reduced bone density

• however, cartilage induction in the maxillary region is normal at E12.5 as indicated by Sox9 protein expression, and normal cartilage formation is seen at E15.5 and E17.5

abnormal premaxilla morphology ( J:203994 )

• at E17.5, all or part of the premaxillary bone is absent; bone density is reduced

small maxilla ( J:203994 )

absent palate bones ( J:203994 )

• at E17.5, the palatal bone is absent

small vertebrae ( J:203994 )

decreased bone mineral density ( J:203994 )

• at E17.5, bone density is reduced in the mandible, maxilla, premaxilla, frontal, tympanic and palatal bones

decreased bone mass ( J:203994 )

• at E17.5, neural crest (NC)- derived bone shows an ~65% reduction in bone mass whereas mesoderm-derived bone is less affected with only an ~25% reduction in bone mass

decreased bone ossification ( J:203994 )

• at E17.5, a mild reduction in ossification is noted in the exoccipital and basioccipital bones of the head and in the vertebrae, ribs and limbs of the body

absent palate bones ( J:203994 )

• at E17.5, the palatal bone is absent

palatal shelves fail to meet at midline ( J:203994 )

• palatal shelves fail to fuse at E15.5

cleft palate ( J:203994 )

• at E15.5, frontal sections through the head revealed cleft palate

abnormal tongue position ( J:203994 )

• at E15.5, the tongue is displaced from the oral cavity

underdeveloped hair follicles ( J:207675 )

• in newborn 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

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

Contributing Projects: 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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