About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cyp26a1tm1.1Ptk
targeted mutation 1.1, Martin Petkovich
MGI:2183291
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cyp26a1tm1.1Ptk/Cyp26a1tm1.1Ptk involves: 129S2/SvPas * C57BL/6 * SJL MGI:3629761


Genotype
MGI:3629761
hm1
Allelic
Composition
Cyp26a1tm1.1Ptk/Cyp26a1tm1.1Ptk
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cyp26a1tm1.1Ptk mutation (0 available); any Cyp26a1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryos die from mid to late gestation

embryo
• observed in 20% of fetuses
• seen in surviving late stage embryos
• in mildly affected embryos, the urogenital sinus is hypoplastic
• the mesonephric and paramesonephric ducts merged prematurely within a hypoplastic urogenital sinus
• lack of neural tube closure in the posterior region noted in one embryo
• enlarged r4 is observed at E9.5
• expression studies suggest that r2 and r3 have adopted characteristics of a more posterior fate

nervous system
• lack of neural tube closure in the posterior region noted in one embryo
• enlarged r4 is observed at E9.5
• expression studies suggest that r2 and r3 have adopted characteristics of a more posterior fate
• observed in some embryos; variable expressivity
• distal nerve fiber is abnormally pattered
• the maxillary branch is abnormally wide
• the opthalamic branch is reduced and some of the fibers are either misrouted toward the maxillary branch or form an ectopic branch

limbs/digits/tail
• hindlimbs are twisted to the left and/or are mispositioned, but are otherwise similar to controls
• observed in 20% of fetuses
• truncations are usually seen in conjuction with spina bifida
• disorganized neural tissue outgrowths within truncated tail rudiments are common
• tail is frequently twisted and truncated

cardiovascular system
• dilated heart cavity and/or pericardial balooning seen at E8.5-E9.5
• imperfectly looped heart tube seen at E8.5-E9.5
• pericardial balooning seen at E8.5-E9.5

renal/urinary system
• in severely affected embryos, a single medial kidney is located between the gonads, with an ectopic secondary rudimentary kidney present that consists of a few metanephric tubules
• in some embryos, mild variable defects seen include posterior fusions of the kidneys (horseshoe kidney)
• the mesonephric and paramesonephric ducts merged prematurely within a hypoplastic urogenital sinus
• a hypoplastic genital tubercle is present with a poorly developed urethral groove
• urogenital ducts and ureter buds end blindly when sirenomelia also present

digestive/alimentary system
• in mildly affected embryos, the hindgut ends as a blind ampulla within the wall of the abnormal urogenital sinus
• the caudal portion of the hindgut (presumptive rectum) is missing

reproductive system
• the mesonephric and paramesonephric ducts merged prematurely within a hypoplastic urogenital sinus
• a hypoplastic genital tubercle is present with a poorly developed urethral groove
• urogenital ducts and ureter buds end blindly when sirenomelia also present
• a hypoplastic genital tubercle is present with a poorly developed urethral groove

skeleton
• vertebral cartilage elements are abnormal caudal to the first lumbar vertebra
• the tail rudiment contains condensations
• in severely affected embryos, the vertebral column is truncated caudal to L1
• variable penetrance of C1 vertebral transformation to a more posterior vertebra fate
• variable penetrance of C2 vertebral transformation to a more posterior vertebra fate
• C7 vertebra consistently adopted a thoracic vertebra fate and harbors a full pair of ribs
• the anterior tuberculum is located on C5 instead of C6, indicating a posterior transformation

growth/size/body
• abdomenoschisis





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/03/2019
MGI 6.14
The Jackson Laboratory