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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Hoxa1tm3.1Mrc
targeted mutation 3.1, Mario R Capecchi
MGI:2151686
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc involves: 129S1/Sv * 129X1/SvJ MGI:3773293
ht2
Hoxa1tm3.1Mrc/Hoxa1tm4(Hoxb1)Mrc involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3703013
cx3
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
Hoxb1tm3Mrc/Hoxb1tm3Mrc
involves: 129S1/Sv * 129X1/SvJ MGI:3773291
cx4
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
Hoxb1tm3Mrc/Hoxb1+
involves: 129S1/Sv * 129X1/SvJ MGI:3773292
cx5
Hoxa1tm3.1Mrc/Hoxa1tm4(Hoxb1)Mrc
Hoxb1tm5Mrc/Hoxb1tm8(Hoxa1)Mrc
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6 MGI:3703012


Genotype
MGI:3773293
hm1
Allelic
Composition
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa1tm3.1Mrc mutation (0 available); any Hoxa1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• apoptosis in the hindbrain is increased

mortality/aging

cardiovascular system
• 74% of mutants exhibit cardiovascular defects at E18.5-P1
• 68% of mutants exhibit aortic arch malformations
• aortic arch malformations are the most severe cardiovascular defects in mutants
• 18% of mutants exhibit aberrant retroesophageal right subclavian artery
• 50% of mutants exhibit interrupted aortic arch type B (IAAB)
• 3% of mutants exhibit right aortic arch
• 68% of mutants exhibit cerebrovascular abnormalities including abnormal branching, hypoplasia or aplasia of the internal and external carotid arteries
• 68% of mutants exhibit cerebrovascular abnormalities including abnormal branching, hypoplasia or aplasia of the internal and external carotid arteries
• 47% of mutants exhibit cardiac outflow tract abnormalities
• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot
• seen in 24% of mutants
• two mutants with ventricular septal defect exhibit overriding aorta, pulmonary stenosis and hypertrophy of the right ventricle, hallmarks of Tetralogy of Fallot
• seen in 24% of mutants

nervous system
• apoptosis in the hindbrain is increased

embryo
• hypoplasia of the second branchial arch is barely perceptible

endocrine/exocrine glands
• all mutants show at least one cardiovascular or glandular malformation
• 71% of mutants exhibit parathyroid hypoplasia or aplasia
• 71% of mutants exhibit parathyroid hypoplasia or aplasia
• 71% of mutants exhibit thymic hypoplasia

hematopoietic system
• 71% of mutants exhibit thymic hypoplasia

immune system
• 71% of mutants exhibit thymic hypoplasia

craniofacial
• hypoplasia of the second branchial arch is barely perceptible

Mouse Models of Human Disease
OMIM ID Ref(s)
Athabaskan Brainstem Dysgenesis Syndrome; ABDS 601536 J:178887




Genotype
MGI:3703013
ht2
Allelic
Composition
Hoxa1tm3.1Mrc/Hoxa1tm4(Hoxb1)Mrc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa1tm3.1Mrc mutation (0 available); any Hoxa1 mutation (6 available)
Hoxa1tm4(Hoxb1)Mrc mutation (0 available); any Hoxa1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in response to an air puff, mice display defects ranging from complete inability to operate eyelids to mild defects where only a narrow slit remains open; 72% of animals are severely affected
• all animals were unable to completely close eyelids (eyeblink reflex) on at least one side
• 44% of mutants exhibit unilateral constraint of most anterior whisking range in response to air puff stimulus
• 7% exhibited one-sided weakness of pinna retraction in response to stimulus
• mice show completely penetrant partial facial paralysis

nervous system
• in mice with a severe eyeblink defect, zygomatic branch of facial nerve is exceedingly thin or absent; sometimes the nerve takes an aberrant trajectory




Genotype
MGI:3773291
cx3
Allelic
Composition
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
Hoxb1tm3Mrc/Hoxb1tm3Mrc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa1tm3.1Mrc mutation (0 available); any Hoxa1 mutation (6 available)
Hoxb1tm3Mrc mutation (0 available); any Hoxb1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• apoptosis in the hindbrain is increased and extends more posteriorly than in Hoxa1 null mice
• branchiomotor neurons do not fasciculate and exit at multiple points along the neural tube unlike in wild-type mice
• hindbrain organization into even- and odd-numbered rhombomeres is lacking
• molecular markers reveal a lack of rhombomeres 4 and 5

embryo
• hindbrain organization into even- and odd-numbered rhombomeres is lacking
• molecular markers reveal a lack of rhombomeres 4 and 5
• the second branchial pouch is absent
• the shape of the third pharyngeal pouch is distorted

craniofacial
• the incus is reduced in size
• the stapes derived from the second branchial arch is absent
• mice lack the levator labii maxillaries, orbicularis occuli and zygomatic muscles
• the posterior belly of the digastric and stylohyoid muscles form but act as a single muscle

endocrine/exocrine glands

hearing/vestibular/ear
• the incus is reduced in size
• the stapes derived from the second branchial arch is absent

respiratory system
• at birth, mice exhibit lung hypoplasia that ranges from 5 small lobes to the presence of only two lobes

muscle
• mice lack the levator labii maxillaries, orbicularis occuli and zygomatic muscles
• the posterior belly of the digastric and stylohyoid muscles form but act as a single muscle

immune system

skeleton
• the incus is reduced in size
• the stapes derived from the second branchial arch is absent

hematopoietic system

cellular
• apoptosis in the hindbrain is increased and extends more posteriorly than in Hoxa1 null mice
• branchiomotor neurons do not fasciculate and exit at multiple points along the neural tube unlike in wild-type mice

growth/size/body
• mice lack the levator labii maxillaries, orbicularis occuli and zygomatic muscles
• the posterior belly of the digastric and stylohyoid muscles form but act as a single muscle




Genotype
MGI:3773292
cx4
Allelic
Composition
Hoxa1tm3.1Mrc/Hoxa1tm3.1Mrc
Hoxb1tm3Mrc/Hoxb1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa1tm3.1Mrc mutation (0 available); any Hoxa1 mutation (6 available)
Hoxb1tm3Mrc mutation (0 available); any Hoxb1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• branchiomotor neurons do not fasciculate and exit at multiple points along the neural tube unlike in wild-type mice
• hindbrain organization into even- and odd-numbered rhombomeres is lacking

embryo
• hindbrain organization into even- and odd-numbered rhombomeres is lacking
• some mice exhibit a distortion of the second and third pouch towards the first

craniofacial

endocrine/exocrine glands

hematopoietic system

immune system

cellular
• branchiomotor neurons do not fasciculate and exit at multiple points along the neural tube unlike in wild-type mice




Genotype
MGI:3703012
cx5
Allelic
Composition
Hoxa1tm3.1Mrc/Hoxa1tm4(Hoxb1)Mrc
Hoxb1tm5Mrc/Hoxb1tm8(Hoxa1)Mrc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxa1tm3.1Mrc mutation (0 available); any Hoxa1 mutation (6 available)
Hoxa1tm4(Hoxb1)Mrc mutation (0 available); any Hoxa1 mutation (6 available)
Hoxb1tm5Mrc mutation (0 available); any Hoxb1 mutation (14 available)
Hoxb1tm8(Hoxa1)Mrc mutation (0 available); any Hoxb1 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• facial paralysis is predominantly manifested in impaired eyeblink reflex
• majority of mice show various levels of facial paralysis





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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory