Phenotypes associated with this allele

• Allele Symbol: Cyp26b1^tm1Hmd
• Allele Name: targeted mutation 1, Hiroshi Hamada
• Allele ID: MGI:3039046
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp26b1^tm1Hmd/Cyp26b1^tm1Hmd	involves: 129S1/Sv * 129X1/SvJ	MGI:5466502
hm2	Cyp26b1^tm1Hmd/Cyp26b1^tm1Hmd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3039649
cn3	Cyp26b1^tm2Hmd/Cyp26b1^tm1Hmd Tg(Hoxb6-cre)#Mku/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6JJcl * C57BL/6NCr	MGI:5466501
cn4	Cyp26b1^tm1Hmd/Cyp26b1^tm1Hmd Tg(Prox1-EGFP)KY221Gsat/0	involves: 129S1/Sv * 129X1/SvJ * FVB/NTac	MGI:5824825

Genotype
MGI:5466502

hm1

• Allelic Composition: Cyp26b1^tm1Hmd/Cyp26b1^tm1Hmd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

integument

impaired skin barrier function ( J:192725 )

• impaired skin barrier function from E16.25-E19

abnormal hair follicle development ( J:192725 )

• hair follicle growth arrested at E18.5

abnormal epidermal layer morphology ( J:192725 )

• abnormalities start to appear around E17.5

abnormal epidermis stratum basale morphology ( J:192725 )

• increased number of proliferative cells in the basal layer of the epidermis

abnormal epidermis stratum corneum morphology ( J:192725 )

• little development of the cornified layers at E17.5

• cornified layers significantly reduced at E18.5

• cornified layers are reduced and difficult to distinguish by light microscopy

• intact nuclei found under the stratum corneum

abnormal corneocyte envelope morphology ( J:192725 )

• cornified envelope is fragile and irregular in morphology at E18.5

absent keratohyalin granules ( J:192725 )

• granular layer of the skin lacks keratohyalin granules

homeostasis/metabolism

impaired skin barrier function ( J:192725 )

• impaired skin barrier function from E16.25-E19

immune system

abnormal lymphatic vessel endothelial cell morphology ( J:206581 )

• expanded distribution of PROX1+ and LYVE1 lymphatic endothelial cell progenitor (LEC) cells to the ventral and medial aspects of the cardinal vein at E11.5

Genotype
MGI:3039649

hm2

• Allelic Composition: Cyp26b1^tm1Hmd/Cyp26b1^tm1Hmd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:89029 )

• mice die shortly after birth due to respiratory distress

cellular

abnormal apoptosis ( J:89029 )

• pronounced apoptosis in the developing limb

craniofacial

micrognathia ( J:89029 )

embryo

abnormal proximal-distal axis patterning ( J:89029 )

• severe limb proximal-distal patterning defects characterized by the expansion of proximal identity and the restriction of distal identity

limbs/digits/tail

abnormal limb morphology ( J:89029 )

• severe proximal-distal patterning and limb outgrowth defects

oligodactyly ( J:89029 )

abnormal forelimb morphology ( J:89029 )

• shortened and consisting of fused bones

short forelimb ( J:89029 )

abnormal hindlimb morphology ( J:89029 )

• shortened and consisting of fused bones

short hindlimb ( J:89029 )

abnormal limb bone morphology ( J:89029 )

respiratory system

respiratory distress ( J:89029 )

skeleton

micrognathia ( J:89029 )

abnormal limb bone morphology ( J:89029 )

delayed chondrocyte differentiation ( J:89029 )

• delayed chondrocyte maturation

vision/eye

eyelids open at birth ( J:89029 )

Genotype
MGI:5466501

cn3

• Allelic Composition: Cyp26b1^tm2Hmd/Cyp26b1^tm1Hmd; Tg(Hoxb6-cre)#Mku/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6JJcl * C57BL/6NCr

integument

integument phenotype ( J:192725 )

N • epidermis is normal at E18.5

limbs/digits/tail

abnormal limb development ( J:192725 )

Genotype
MGI:5824825

cn4

• Allelic Composition: Cyp26b1^tm1Hmd/Cyp26b1^tm1Hmd; Tg(Prox1-EGFP)KY221Gsat/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/NTac

immune system

abnormal lymphatic vessel morphology ( J:206581 )

• mice exhibit hyperplastic, blood-filled deep and superficial lymphatics due to defects in lympho-venous valve patterning compared with wild-type mice

• jugular lymph sacs are enlarged compared to in wild-type mice

abnormal lymphatic vessel endothelial cell morphology ( J:206581 )

• expanded and ectopic distribution of PROX1+ and LYVE1 lymphatic endothelial cell progenitor (LEC) cells to the ventral and medial aspects of the cardinal vein at E11.5

• mice exhibit an increase in the pool of venous LEC progenitors due to increased proliferation compared with wild-type mice

cardiovascular system

cardiovascular system phenotype ( J:206581 )

N • overall morphology and size of veins are normal

hemorrhage ( J:206581 )

• hemorrhage in the region of the developing jugular lymph sacs at E13.5

homeostasis/metabolism

skin edema ( J:206581 )

• pronounced edema at E14.5 and E16.5

integument

skin edema ( J:206581 )

• pronounced edema at E14.5 and E16.5