Phenotypes associated with this allele

• Allele Symbol: Hoxa1^tm1Rez
• Allele Name: targeted mutation1 1, Rene Rezsohazy
• Allele ID: MGI:3056069
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hoxa1^tm1Rez/Hoxa1^tm1Rez	involves: 129S/SvEv * BALB/c * C57BL/6	MGI:3056337

Genotype
MGI:3056337

hm1

• Allelic Composition: Hoxa1^tm1Rez/Hoxa1^tm1Rez
• Genetic Background: involves: 129S/SvEv * BALB/c * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:93020 )

• about 25% die at birth or within 24 hours of birth

postnatal lethality, incomplete penetrance ( J:93020 )

• another 15% die within by 2 weeks of age, however unlike homozygous Hoxa1 null mice 60% of mutants are viable

craniofacial

abnormal basioccipital bone morphology ( J:93020 )

• the basioccipital bone is abnormally shaped and lacks distinct concave lateral borders in 13 out of 20 mutants

small malleus ( J:93020 )

• the malleus is occasionally small or malformed (3 out of 40)

absent stapes ( J:93020 )

• the stapes is occasionally absent (3 out of 40)

hearing/vestibular/ear

small malleus ( J:93020 )

• the malleus is occasionally small or malformed (3 out of 40)

absent stapes ( J:93020 )

• the stapes is occasionally absent (3 out of 40)

abnormal cochlea morphology ( J:93020 )

• the cochlea is significantly reduced (10 out of 40)

abnormal semicircular canal morphology ( J:93020 )

• the semicircular canals are dilated and have undergone only rudimentary morphogenesis (19 out of 40)

abnormal tympanic ring morphology ( J:93020 )

• the tympanic ring is displaced in 4 out of 40 mutant ears and abnormally shaped in 2 out of 40 mutant ears

skeleton

abnormal basioccipital bone morphology ( J:93020 )

• the basioccipital bone is abnormally shaped and lacks distinct concave lateral borders in 13 out of 20 mutants

small malleus ( J:93020 )

• the malleus is occasionally small or malformed (3 out of 40)

absent stapes ( J:93020 )

• the stapes is occasionally absent (3 out of 40)

nervous system

increased rhombomere 3 size ( J:93020 )

• rhombomere 3 is enlarged

rhombomere fusion ( J:93020 )

• rhombomeres 4, 5, and 6 are fused

abnormal cranial ganglia morphology ( J:93020 )

• the facial-acoustic ganglion complex is disorganized and abnormally positioned

• ganglia IX and X are abnormal leading to fusion of the proximal parts of these two nerves

abnormal cranial nerve morphology ( J:93020 )

abnormal glossopharyngeal nerve morphology ( J:93020 )

• the interganglionic portion of the nerve is often missing and the brainstem connection is lost when this nerve is fused to the vagus nerve (cranial nerve X)

abnormal vagus nerve morphology ( J:93020 )

• the interganglionic portion of the nerve is often missing however 20% of the time this nerve is normal unlike in Hoxa1 null mice

fusion of glossopharyngeal and vagus nerve ( J:93020 )

• the proximal portions of cranial nerves IX and X are fused

embryo

abnormal cranial neural crest cell migration ( J:93020 )

• migrating neural crest cells forming cranial nerve IX are reduced or absent and those forming nerve X are absent

increased rhombomere 3 size ( J:93020 )

• rhombomere 3 is enlarged

rhombomere fusion ( J:93020 )

• rhombomeres 4, 5, and 6 are fused

cellular

abnormal cranial neural crest cell migration ( J:93020 )

• migrating neural crest cells forming cranial nerve IX are reduced or absent and those forming nerve X are absent