title: Model organism or animal sample from Canis lupus familiaris
organism: Canis lupus familiaris
description: Haemophilia A is an extremely rare disorder in females, as the causative F8 gene is located on the X chromosome. In the present case, a female dog with a mild form of haemophilia A is described. To identify a causative variant in the F8 gene, whole-genome sequencing was performed on the affected dog. A previously unreported homozygous missense variant was identified in exon 11 of the F8 gene, resulting in an amino acid substitution within the A2 domain of factor VIII, a region critical for the stability and function of the coagulation factor.
attributes.tag: breed
attributes.value: German Shepherd
attributes.tag: age
attributes.value: 2
attributes.tag: dev_stage
attributes.value: adult
attributes.tag: collection_date
attributes.value: 2025
attributes.tag: geo_loc_name
attributes.value: Germany
attributes.tag: sex
attributes.value: female
attributes.tag: tissue
attributes.value: hair
attributes.tag: birth_date
attributes.value: 2023-11-13
attributes.tag: birth_location
attributes.value: Africa
attributes.tag: disease
attributes.value: Haemophilia A
attributes.tag: sample_type
attributes.value: hair roots
attributes.tag: sub_species
attributes.value: familiaris
attributes.tag: BioSampleModel
attributes.value: Model organism or animal