Phenotypes Associated with This Genotype

Genotype
MGI:3033772

• Allelic Composition: Hoxa3^tm1Mrc/Hoxa3^tm1Mrc
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

perinatal lethality, complete penetrance ( J:17753 )

• mice die within 12 hours of birth due to cardiac defects or pulmonary failure

• the abdomen was bloated with air in about 50% of the mice

cardiovascular system

abnormal cardiovascular system morphology ( J:17753 )

• a range of cardiovascular defects were detected including those that are strong indicators of cardiovascular dysfunction; however, these did not include any septal or transposition defects

aorta hypoplasia ( J:17753 )

• detailed examination revealed a thin walled and poorly developed aorta

abnormal vein morphology ( J:17753 )

• enlargement of the chief veins including the jugular veins, pulmonary veins, and the superior and inferior vena cava was detected which coupled with hypertrophy of the atria are strong indicators of cardiovascular dysfunction

persistent truncus arteriosus ( J:17753 )

abnormal heart size ( J:17753 )

• the size and shape of the chambers of the heart are abnormal

• the right ventricle is smaller with a thinner wall

• however, the wall of the right atrium was dilated and thickened

aortic valve stenosis ( J:17753 )

• coronal sections revealed stenosis of the aortic valve

bicuspid pulmonary valve ( J:17753 )

• a defective pulmonary valve with only two cusps was found

dilated heart left ventricle ( J:17753 )

• in contrast to the right ventricle the wall of the left ventricle was dilated and thickened

craniofacial

abnormal hyoid bone greater horn morphology ( J:161296 )

• the greater horn of the hyoid bone is malformed and fused to the thyroid cartilage unlike in wild-type mice

abnormal hyoid bone lesser horn morphology ( J:161296 )

• the lesser horn of the hyoid bone is reduced in size or absent unlike in wild-type mice

absent hyoid bone lesser horns ( J:17753 , J:161296 )

• detailed examination revealed that the lesser horn of the hyoid bone is absent (J:17753)

• in some mice (J:161296)

short mandible ( J:17753 )

short maxilla ( J:17753 )

abnormal pharyngeal arch morphology ( J:17753 )

• the demarcation between pharyngeal arches 3 and 4 is less well defined

abnormal fourth pharyngeal arch morphology ( J:17753 )

• the relative position of pharyngeal arch 4 is altered

abnormal facial morphology ( J:17753 )

• facial features appear abnormal due to shortened size and altered shape of the mandible and maxilla

short soft palate ( J:161296 )

• shortened

abnormal tongue muscle morphology ( J:17753 )

• the muscle fibers in the lower part of the tongue are disorganized

embryo

abnormal pharyngeal arch morphology ( J:17753 )

• the demarcation between pharyngeal arches 3 and 4 is less well defined

abnormal fourth pharyngeal arch morphology ( J:17753 )

• the relative position of pharyngeal arch 4 is altered

abnormal ultimobranchial body morphology ( J:161296 )

• separated from the thyroid

endocrine/exocrine glands

absent parathyroid glands ( J:17753 , J:161296 )

athymia ( J:17753 , J:161296 )

abnormal thyroid gland morphology ( J:161296 )

• ultimobranchial body-derived C-cells fail to mix with the thyroid proper unlike in wild-type mice

abnormal ultimobranchial body morphology ( J:161296 )

• separated from the thyroid

abnormal thyroid gland isthmus morphology ( J:161296 )

• mice exhibit absent or ectopic ventral thyroid isthmus compared with wild-type mice

absent thyroid gland isthmus ( J:161296 )

• the ventral thyroid isthmus may be absent

small thyroid gland ( J:17753 )

immune system

athymia ( J:17753 , J:161296 )

muscle

abnormal muscle morphology ( J:17753 )

• the ring of muscle surrounding the esophagus is absent and these mice lack control of the esophagus

abnormal tongue muscle morphology ( J:17753 )

• the muscle fibers in the lower part of the tongue are disorganized

respiratory system

abnormal respiratory system morphology ( J:17753 )

• the abnormalities detailed below together with those in the musculature result in breathing difficulties with air being pumped into the stomach and intestines and contribute to the bloated abdomen phenotype seen in these mice

abnormal larynx morphology ( J:17753 )

• the larynx is positioned closer to the cervical vertebrae

abnormal epiglottis morphology ( J:17753 )

• the connection of muscles to the epiglottis is disorganized and these mice lack control of the epiglottis

abnormal cricoid cartilage morphology ( J:17753 )

• the cricoid cartilage appears shortened and thickened

abnormal thyroid cartilage morphology ( J:17753 )

• the thyroid cartilage appears shortened and thickened

larynx stenosis ( J:17753 )

• the larynx is narrower than normal

abnormal trachea morphology ( J:161296 )

• the tracheal epithelium is thicker with more convoluted surface than in wild-type mice

small trachea ( J:17753 )

• the trachea is smaller and positioned closer to the cervical vertebrae

skeleton

abnormal skeleton morphology ( J:17753 )

abnormal hyoid bone greater horn morphology ( J:161296 )

• the greater horn of the hyoid bone is malformed and fused to the thyroid cartilage unlike in wild-type mice

abnormal hyoid bone lesser horn morphology ( J:161296 )

• the lesser horn of the hyoid bone is reduced in size or absent unlike in wild-type mice

absent hyoid bone lesser horns ( J:17753 , J:161296 )

• detailed examination revealed that the lesser horn of the hyoid bone is absent (J:17753)

• in some mice (J:161296)

short mandible ( J:17753 )

short maxilla ( J:17753 )

abnormal epiglottis morphology ( J:17753 )

• the connection of muscles to the epiglottis is disorganized and these mice lack control of the epiglottis

abnormal cricoid cartilage morphology ( J:17753 )

• the cricoid cartilage appears shortened and thickened

abnormal thyroid cartilage morphology ( J:17753 )

• the thyroid cartilage appears shortened and thickened

abnormal clavicle morphology ( J:17753 )

• the entire thoracic region is thrust towards the head, and the end of the clavicle is at the level of the axis rather than at the level of two cervical vertebrae caudal to the axis

abnormal cervical vertebrae morphology ( J:17753 )

• the positioning of the bones in the neck is abnormal in mutant mice

• the larynx and the trachea are positioned much closer to the cervical vertebrae resulting in a visibly shorter neck

nervous system

abnormal glossopharyngeal nerve morphology ( J:45337 , J:161296 )

• partial deletion of cranial nerve IX sometimes seen (J:45337)

• the glossopharyngeal nerve is either fused to the vagus nerve or disconnected from the hind brain unlike in wild-type mice (J:161296)

fusion of glossopharyngeal and vagus nerve ( J:45337 , J:161296 )

• cranial nerve fusions sometimes seen (J:45337)

• in some mice (J:161296)

hematopoietic system

athymia ( J:17753 , J:161296 )

digestive/alimentary system

short soft palate ( J:161296 )

• shortened

abnormal tongue muscle morphology ( J:17753 )

• the muscle fibers in the lower part of the tongue are disorganized

abnormal epiglottis morphology ( J:17753 )

• the connection of muscles to the epiglottis is disorganized and these mice lack control of the epiglottis

growth/size/body

abnormal facial morphology ( J:17753 )

• facial features appear abnormal due to shortened size and altered shape of the mandible and maxilla

short soft palate ( J:161296 )

• shortened

abnormal tongue muscle morphology ( J:17753 )

• the muscle fibers in the lower part of the tongue are disorganized

distended abdomen ( J:161296 )

• bloated due to breathing air into the esophagus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:17753