Phenotypes Associated with This Genotype

Genotype
MGI:2171595

• Allelic Composition: Nkx3-2^tm1.1Tlu/Nkx3-2^tm1.1Tlu
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J)

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

mortality/aging

neonatal lethality, complete penetrance ( J:55583 )

• newborns die within minutes of birth, probably because they fail to initiate normal respiration

growth/size/body

abnormal thoracic cavity morphology ( J:55583 )

• thoracic cavity is distended radially

barrel chest ( J:55583 )

decreased body height ( J:55583 )

• slightly shorter in stature

hematopoietic system

absent spleen ( J:55583 )

• 100% penetrance of asplenia in newborns; earliest absence of spleen precursor cells is seen at E11.5, at the time of normal appearance of spleen anlage

immune system

absent spleen ( J:55583 )

• 100% penetrance of asplenia in newborns; earliest absence of spleen precursor cells is seen at E11.5, at the time of normal appearance of spleen anlage

craniofacial

abnormal cranium morphology ( J:55583 )

abnormal neurocranium morphology ( J:55583 )

• floor of the cranial vault is either reduced in size or has severe dysmorphology of the basisphenoid and basioccipital bones

abnormal basioccipital bone morphology ( J:55583 )

• malformed

abnormal basisphenoid bone morphology ( J:55583 )

• malformed

small exoccipital bone ( J:55583 )

• exoccipital bone is reduced in size and displays fissures

absent supraoccipital bone ( J:55583 )

limbs/digits/tail

limbs/digits/tail phenotype ( J:55583 )

N • no defects in the limb skeleton

short tail ( J:55583 )

• truncated tails

skeleton

abnormal cranium morphology ( J:55583 )

abnormal neurocranium morphology ( J:55583 )

• floor of the cranial vault is either reduced in size or has severe dysmorphology of the basisphenoid and basioccipital bones

abnormal basioccipital bone morphology ( J:55583 )

• malformed

abnormal basisphenoid bone morphology ( J:55583 )

• malformed

small exoccipital bone ( J:55583 )

• exoccipital bone is reduced in size and displays fissures

absent supraoccipital bone ( J:55583 )

abnormal intervertebral disk morphology ( J:55583 )

• intervertebral discs are about 0.2-0.5 times the normal thickness

abnormal vertebrae morphology ( J:55583 )

abnormal cervical atlas morphology ( J:55583 )

• absent anterior arch of atlas

abnormal vertebral arch morphology ( J:55583 )

• neural arches are about 0.2-0.5 times the normal thickness

abnormal vertebral body morphology ( J:55583 )

• in all vertebrae, the vertebral bodies are hypoplastic, with only a small region of the dorsal vertebral body still present and the ventral vertebral body completely absent

• all vertebral bodies at E18.5 show a total loss of ossification centers and at E12.5, chondrogenic condensations surrounding the notochord do not exhibit ossification centers

abnormal vertebral body development ( J:55583 )

• 2.7-fold increase in the number of cells undergoing apoptosis in developing vertebral bodies at E10.5-E14.5

small vertebrae ( J:55583 )

• reduction in the overall rostrocaudal length of individual vertebrae

short vertebral column ( J:55583 )

• reduction in length of the vertebral column

axial skeleton hypoplasia ( J:55583 )

abnormal cartilage development ( J:55583 )

• chondrogenesis is absent in vertebral bodies at E12.5 and E14.5

abnormal bone ossification ( J:55583 )

• all vertebral bodies at E18.5 show a total loss of ossification centers

• total absence of the ossification center of the cartilage primordium of the body of the hyoid bone