Phenotypes associated with this allele

• Allele Symbol: Del(19Cyp26a1-Cyp26c1)1Hmd
• Allele Name: deletion, Chr 19, Hiroshi Hamada 1
• Allele ID: MGI:6473133
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(19Cyp26a1-Cyp26c1)1Hmd/Del(19Cyp26a1-Cyp26c1)1Hmd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3707681
cx2	Aldh1a2^tm1Ipc/Aldh1a2^tm1Ipc Del(19Cyp26a1-Cyp26c1)1Hmd/Del(19Cyp26a1-Cyp26c1)1Hmd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3707682

Genotype
MGI:3707681

hm1

• Allelic Composition: Del(19Cyp26a1-Cyp26c1)1Hmd/Del(19Cyp26a1-Cyp26c1)1Hmd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119939 )

• no viable embryos at E11

• all double mutant embryos resorbed by E12.5

embryo

abnormal neural crest cell migration ( J:119939 )

• premigratory neural crest cells form normally but migratory cells are lost

• R4 derived neural crest cells migrate toward the second branchial arch and surroundings but in reduced numbers

first pharyngeal arch hypoplasia ( J:119939 )

• first branchial arches are hypoplastic

second pharyngeal arch hypoplasia ( J:119939 )

• second branchial arches are hypoplastic

abnormal ectomesenchyme morphology ( J:119939 )

• reduced number of cells in the head mesenchyme at E8.75 in the area from the forebrain through the anterior hindbrain

• defective epithelial-mesenchymal transition with the accumulation of excess cells in the neural plate

open neural tube ( J:119939 )

• failure of neural tube closure from the forebrain to the hindbrain at E9.5

• the posterior neural tube is closed

abnormal rhombomere morphology ( J:119939 )

• r1, r2, and r3 specification is impaired as indicated by expression of genetic markers

truncated tail bud ( J:119939 )

craniofacial

first pharyngeal arch hypoplasia ( J:119939 )

• first branchial arches are hypoplastic

second pharyngeal arch hypoplasia ( J:119939 )

• second branchial arches are hypoplastic

abnormal facial morphology ( J:119939 )

• reduced eye and frontonasal region of the head at E9.5

nervous system

nervous system phenotype ( J:119939 )

N • cranial nerve ganglia IX and X are normal

forebrain hypoplasia ( J:119939 )

• reduced development of the forebrain

increased hindbrain size ( J:119939 )

• expanded hindbrain at the expense of the forebrain and midbrain

midbrain hypoplasia ( J:119939 )

• reduced development of the midbrain

abnormal nervous system development ( J:119939 )

open neural tube ( J:119939 )

• failure of neural tube closure from the forebrain to the hindbrain at E9.5

• the posterior neural tube is closed

abnormal hindbrain development ( J:119939 )

• preotic sulcus and otic sulcus absent at E8.5

abnormal rhombomere morphology ( J:119939 )

• r1, r2, and r3 specification is impaired as indicated by expression of genetic markers

abnormal cranial ganglia morphology ( J:119939 )

cochlear ganglion hypoplasia ( J:119939 )

abnormal geniculate ganglion morphology ( J:119939 )

• hypoplastic

absent trigeminal ganglion ( J:119939 )

• missing

limbs/digits/tail

truncated tail bud ( J:119939 )

cellular

abnormal neural crest cell migration ( J:119939 )

• premigratory neural crest cells form normally but migratory cells are lost

• R4 derived neural crest cells migrate toward the second branchial arch and surroundings but in reduced numbers

growth/size/body

abnormal head morphology ( J:119939 )

abnormal facial morphology ( J:119939 )

• reduced eye and frontonasal region of the head at E9.5

abnormal ectomesenchyme morphology ( J:119939 )

• reduced number of cells in the head mesenchyme at E8.75 in the area from the forebrain through the anterior hindbrain

• defective epithelial-mesenchymal transition with the accumulation of excess cells in the neural plate

microcephaly ( J:119939 )

• reduced head size at E9.5

Genotype
MGI:3707682

cx2

• Allelic Composition: Aldh1a2^tm1Ipc/Aldh1a2^tm1Ipc; Del(19Cyp26a1-Cyp26c1)1Hmd/Del(19Cyp26a1-Cyp26c1)1Hmd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

nervous system

nervous system phenotype ( J:119939 )

N • no CNS defects detected or very minor defects found

embryo

abnormal head mesenchyme morphology ( J:119939 )

• head mesenchyme cell numbers are normal in only 50% of mice

growth/size/body

abnormal head mesenchyme morphology ( J:119939 )

• head mesenchyme cell numbers are normal in only 50% of mice