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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ahdc1em#Oro
endonuclease-mediated mutation 1, Anthony E Oro
MGI:7595527
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ot1
Ahdc1em#Oro/? mosaic involves: C57BL/6 * CD-1 MGI:7595529


Genotype
MGI:7595529
ot1
Allelic
Composition
Ahdc1em#Oro/?
Genetic
Background
mosaic involves: C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ahdc1em#Oro mutation (0 available); any Ahdc1 mutation (211 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice fail to survive past birth

vision/eye
• less severely affected mice exhibit eyes open at birth
• the most severely affected E18 mutants have missing eyes

craniofacial
• less severely affected mice have craniofacial abnormalities such as short snouts or craniosynostosis
• seen in less severely affected mice

skeleton
• seen in less severely affected mice

integument
• more severely affected E18 mutants show skin stratification defects including loss of basal and suprabasal markers
• differentiated skin layers are substantially reduced in more severely affected mutants
• the epidermis appears incompletely attached to the underlying dermis is more severely affected mutants
• the most severely affected E18 mutants show friable poorly formed skin easily sloughing from the body

growth/size/body
• seen in less severely affected mice
• the most severely affected E18 mutants have open ventral walls
• the most severely affected E18 mutants are undersized

cardiovascular system
• the most severely affected E18 mutants hypovascularized

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Xia-Gibbs Syndrome DOID:0070055 OMIM:615829
J:326009





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory