In other species: pig , sheep

Categories: Craniofacial phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: no

Key variant known: no

Cross-species summary: Appendages suspended from the head. They are fusiform (spindle shaped), fleshy masses covered with normal skin and suspended from the mandibular area.

Species-specific name: Also known as appendices colli, cervical chondrocutaneous remnants, and congenital cartilaginous rest of neck

Inheritance: The pedigree analysis conducted by Reber et al. (2015) was consistent with earlier data supporting autosomal dominant inheritance.

Mapping: By conducting a GWAS on 174 goats with wattles and 167 without wattles, from 9 different Swiss breeds, each genotyped with the Illumina’s goat SNP50 BeadChip (comprising 53,346 SNPs), Reber et al. (2015) mapped this trait to chromosome "CHIR 10 at 26 397 973 bp and 26 526 103 bp (goat genome assembly CHIR_1.0)", implicating two comparative positional candidate genes (FMN1 and GREM1 which "are known to play a role during limb outgrowth and limb development of mammals and thus represent good functional candidate genes for a developmental phenotype like wattles." Zhang et al. (2022): "Thirty-eight goats from two Southwest Chinese breeds were studied to elucidate the genetic basis of wattle phenotype in goat. Their genomes were sequenced for wide-genome selective sweep analysis (WGSA) and a genome-wide association study (GWAS). ... This study identified a series of genes related to chondroplasia by GWAS and WGSA and presented the possibility that wattle inheritance may be influenced by multiple genes." Xu et al. (2022) "collected samples of 189 dairy goats, including 94 with wattles and 95 without wattles, from four different farms and multiple dairy goat breeds. The samples were genotyped with the GeneSeek Genomic Profiler Goat 70 K SNP chip. Genome-wide association studies (GWAS) in wattles have identified associations with single nucleotide polymorphisms (SNPs) at chromosome 10."

Molecular basis: Whole-genome sequencing of a trio of two heterozygous wattled parents and a non-wattled offspring by Reber et al. (2015) failed to reveal any variant in the candidate region of chromosome 10 that segregated completely with the trait.

Associated genes: