Phenotypes associated with this allele

• Allele Symbol: Nkx3-2^tm1Tno
• Allele Name: targeted mutation 1, Tetsuo Noda
• Allele ID: MGI:2183276
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx3-2^tm1Tno/Nkx3-2^tm1Tno	involves: 129S4/SvJae * C57BL/6J	MGI:3609026

Genotype
MGI:3609026

hm1

• Allelic Composition: Nkx3-2^tm1Tno/Nkx3-2^tm1Tno
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:77612 )

• homozygotes die within a few hours after birth

skeleton

abnormal axial skeleton morphology ( J:77612 )

• homozygotes display severe skeletal dysplasia affecting the axial skeleton and a number of craniofacial bones

abnormal craniofacial bone morphology ( J:77612 )

basioccipital bone hypoplasia ( J:77612 )

• the mutant basioccipital bone is hypoplastic

basisphenoid bone hypoplasia ( J:77612 )

• the mutant basisphenoid and prebasisphenoid bones are hypoplastic

abnormal exoccipital bone morphology ( J:77612 )

• newborn homozygotes exhibit neural arch hypoplasia of the exoccipital bone

abnormal supraoccipital bone morphology ( J:77612 )

• the mutant supraoccipital bone remains unossified

abnormal hyoid bone body morphology ( J:77612 )

• the mutant corpus ossis hyoidei remains unossified

abnormal thoracic vertebrae morphology ( J:77612 )

• mutant lower thoracic vertebrae exhibit split cartilageous vertebral bodies without ossification centers and absence of intervertebral discs

absent intervertebral disk ( J:77612 )

• mutant intervertebral discs are absent, predominantly in rostral vertebrae

abnormal cervical vertebrae morphology ( J:77612 )

abnormal cervical atlas morphology ( J:77612 )

• newborn homozygotes display absence of ventromedial structures

absent ventral tubercle of atlas ( J:77612 )

• newborn homozygotes display absence of the ventral tubercle of C1 (atlas)

abnormal cervical axis morphology ( J:77612 )

• newborn homozygotes display absence of ventromedial structures

abnormal odontoid process morphology ( J:77612 )

• newborn homozygotes display absence of odontoid process of C2 (axis)

abnormal lumbar vertebrae morphology ( J:77612 )

• mutant upper lumber vertebrae exhibit split cartilageous vertebral bodies without ossification centers and absence of intervertebral discs

abnormal vertebrae development ( J:77612 )

abnormal vertebral arch morphology ( J:77612 )

• newborn homozygotes exhibit neural arch hypoplasia of the rostral vertebrae and the exoccipital bone; several cervical neural arches appear split

abnormal vertebral body morphology ( J:77612 )

• in lower thoracic and upper lumber vertebrae, mutant vertebral bodies fail to fuse medially and ossification centers do not form

vertebral body hypoplasia ( J:77612 )

• at E15.5, mutant vertebral bodies are immature (i.e. hypoplastic), still consisting of proliferative chondrocytes in the presence of notochord; in contrast, wild-type vertebral bodies contain hypertrophic chondrocytes in their centra and the notochord is nearly absent

abnormal cartilage development ( J:77612 )

• homozygotes exhibit an arrest of chondrogenesis in the vertebral bodies at the maturational step from chondrocytes to hypertrophic chondrocytes

abnormal sclerotome morphology ( J:77612 )

• at E15.5, mutant embryos exhibit abnormal differentiation of sclerotome cells destined to form vertebral bodies and intervertebral discs

• significantly reduced proliferative activity of sclerotome cells is noted at E11.5 and E12.5

craniofacial

abnormal craniofacial bone morphology ( J:77612 )

basioccipital bone hypoplasia ( J:77612 )

• the mutant basioccipital bone is hypoplastic

basisphenoid bone hypoplasia ( J:77612 )

• the mutant basisphenoid and prebasisphenoid bones are hypoplastic

abnormal exoccipital bone morphology ( J:77612 )

• newborn homozygotes exhibit neural arch hypoplasia of the exoccipital bone

abnormal supraoccipital bone morphology ( J:77612 )

• the mutant supraoccipital bone remains unossified

abnormal hyoid bone body morphology ( J:77612 )

• the mutant corpus ossis hyoidei remains unossified

growth/size/body

decreased body length ( J:77612 )

• newborn homozygotes exhibit short crown-rump length relative to wild-type newborns

embryo

abnormal notochord morphology ( J:77612 )

• at E15.5, the mutant notochord fails to expand sufficiently to form the nucleus pulposus of the prospective intervertebral discs

persistence of notochord tissue ( J:77612 )

• at E15.5, proliferative chondrocytes in the presence of notochord is still seen; in contrast, the notochord is nearly absent in control animals

hematopoietic system

absent spleen ( J:77612 )

• newborn homozygotes display asplenia

• at E14.5, mesenchymal cells form a splenic 'scaffold' in dorsal mesentery, but splenic cells fail to condense

immune system

absent spleen ( J:77612 )

• newborn homozygotes display asplenia

• at E14.5, mesenchymal cells form a splenic 'scaffold' in dorsal mesentery, but splenic cells fail to condense

limbs/digits/tail

kinked tail ( J:77612 )

digestive/alimentary system

abnormal digestive system morphology ( J:77612 )

• newborn homozygotes exhibit a malformed hindstomach and duodenum without pyrolic constriction; however, smooth muscle cells in tunica muscularis and lamina muscularis mucosae are normally present

respiratory system

respiratory distress ( J:77612 )

• newborn homozygotes exhibit gasping respiration prior to death

cellular

decreased cell proliferation ( J:77612 )

• at E11.5 and E12.5 (but not earlier), homozygotes exhibit an ~25% reduction in the number of BrdU-labelled sclerotome cells, indicating reduced proliferative activity following cell migration toward the notochord