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Phenotypes Associated with This Genotype
Genotype
MGI:5447979
Allelic
Composition
HhatTg(TFAP2A-cre)1Will/HhatTg(TFAP2A-cre)1Will
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
HhatTg(TFAP2A-cre)1Will mutation (1 available); any Hhat mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no viable animals are recovered postnatally

endocrine/exocrine glands
• testicular dysgenesis
• marker analysis indicates that differentiation of fetal Leydig cells and steroidogenesis are not initiated at E12.5 and E13.5
• testis development is severely affected by E12.5
• the interstitial compartment of the developing testes at E13.5 and E15.5 exhibits a high cellular density typical of irregular and dense connective tissues
• however, female germ cells are normal in numbers and ovarian differentiation occurs normally
• decrease in testis cord numbers
• alteration of the size and shape of testis cords which appear irregular and anastomotic
• however, differentiation of Sertoli cells appears normal
• drastic reduction in testis size that is apparent from E12.5 to E15.5

reproductive system
• testicular dysgenesis
• marker analysis indicates that differentiation of fetal Leydig cells and steroidogenesis are not initiated at E12.5 and E13.5
• testis development is severely affected by E12.5
• the interstitial compartment of the developing testes at E13.5 and E15.5 exhibits a high cellular density typical of irregular and dense connective tissues
• however, female germ cells are normal in numbers and ovarian differentiation occurs normally
• decrease in testis cord numbers
• alteration of the size and shape of testis cords which appear irregular and anastomotic
• however, differentiation of Sertoli cells appears normal
• drastic reduction in testis size that is apparent from E12.5 to E15.5

craniofacial
• skeletal elements of cranium are reduced in size in association with diminished zone of proliferating chondrocytes
• reduced in size and misshapen at E17.5
• observed at E17.5
• reduced in size and misshapen at E17.5
• observed at E17.5
• observed at E17.5
• incisor and alveolar molar tooth primordia are missing at E17.5
• tooth development is disrupted
• dentary bones lack condyle, angular and coronoid processes at E17.5
• at E17.5 only rudimentary premaxilla, maxilla and dentary bones are observed
• observed at E17.5
• frontonasal region is reduced in size by E10.5 so that only a single slit is present
• hypoplastic at E9.5-10.5 resulting in narrow protruding midface by E14.5 with more pronounced mandibular hypoplasia
• hypoplastic at E9.5-10.5 resulting in narrow protruding midface by E14.5 with more pronounced maxillary hypoplasia
• nasal cartilage is absent or hypoplastic at E15.5
• at E14.5 palatal shelves are not easily identifiable
• embryos display defects in the vertical extension of palatal shelves
• embryos display defects in the medial growth of palatal shelves toward the midline
• oral cavity is considerably narrower than in controls at E14.5
• observed at E14.5
• E14.5 embryos possess a single discontinuous nasal cavity
• missing in E14.5 embryos

embryo
• embryos as smaller than controls at E10.5
• neural crest lineages are altered compared to wild type
• neural crest derived frontonasal, maxillary, mandibular and prospective palatal mesenchyme displays considerably more apoptosis than controls

skeleton
• skeletal elements of cranium are reduced in size in association with diminished zone of proliferating chondrocytes
• reduced in size and misshapen at E17.5
• observed at E17.5
• reduced in size and misshapen at E17.5
• observed at E17.5
• observed at E17.5
• incisor and alveolar molar tooth primordia are missing at E17.5
• tooth development is disrupted
• dentary bones lack condyle, angular and coronoid processes at E17.5
• at E17.5 only rudimentary premaxilla, maxilla and dentary bones are observed
• observed at E17.5
• nasal cartilage is absent or hypoplastic at E15.5
• staining for cartilage in the vertebral column is absent at E15.5
• diminished chondrogenesis of calvarial, nasal and otic mesenchyme is observed with cranial cartilage elements hypoplastic or missing at E15.5
• ossified bone is completely absent in skull and jaw at E15.5

limbs/digits/tail
• observed at E14.5

growth/size/body
• incisor and alveolar molar tooth primordia are missing at E17.5
• tooth development is disrupted
• nasal cartilage is absent or hypoplastic at E15.5
• at E14.5 palatal shelves are not easily identifiable
• embryos display defects in the vertical extension of palatal shelves
• embryos display defects in the medial growth of palatal shelves toward the midline
• oral cavity is considerably narrower than in controls at E14.5
• observed at E14.5
• E14.5 embryos possess a single discontinuous nasal cavity
• missing in E14.5 embryos
• embryos as smaller than controls at E10.5

vision/eye
• failure to form the cornea
• in some embryos eye remains embedded in brain tissue; this lack of surface ectoderm contact results in failure to form tissues such as the cornea

nervous system
• neural crest lineages are altered compared to wild type
• neural crest derived frontonasal, maxillary, mandibular and prospective palatal mesenchyme displays considerably more apoptosis than controls
• smaller telencephalic vesicles are observed by E9.5
• diencephalic hypoplasia is observed by E9.5 with agenesis of prosomere 2

digestive/alimentary system
• at E14.5 palatal shelves are not easily identifiable
• embryos display defects in the vertical extension of palatal shelves
• embryos display defects in the medial growth of palatal shelves toward the midline
• observed at E14.5

respiratory system
• nasal cartilage is absent or hypoplastic at E15.5
• E14.5 embryos possess a single discontinuous nasal cavity
• missing in E14.5 embryos

homeostasis/metabolism
• outer layer of skin is displaced from body cavity

cardiovascular system
• large areas of pooling blood are observed in anterior region of embryo

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chondrodysplasia-pseudohermaphroditism syndrome DOID:0060644 OMIM:600092
J:226657


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)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory