KIT Gene Mutation Effects on Deafness and Hypopigmentation in Bama Pigs

A KITD806E/+ pig pedigree model presents congenital bilateral severe sensorineural hearing loss with hypopigmentation, exactly matching human Waardenburg syndrome. The dataset likely contains histological and electron microscopy results from cochlea analysis at embryonic day 85 (E85), E100, and postnatal day 1 (P1). It was produced by Cong Xu at the Chinese PLA General Hospital and shared via paperswithcode.

Use Cases

• Study gene-disease associations based on the KITD806E/+ mutation described.
• Model syndromic hearing loss progression based on temporal histological analysis from E85 to P1.
• Investigate melanocyte development in cochlea based on findings of stria vascularis malformation.
• Validate animal models for human genetic syndromes based on the described phenotypic match to Waardenburg syndrome.

Strengths

• Data is derived from a genetically engineered animal pedigree with an autosomal dominant inheritance model.
• Analysis includes multiple time points (E85, E100, P1) and multiple microscopy techniques (SEM, TEM).
• Findings are linked to a specific clinical condition, Waardenburg syndrome.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Last update date is unknown; freshness unverified.

Provenance

Source

Chinese PLA General Hospital

Collection Method

Experimental study using a genetically engineered Bama miniature pig pedigree.