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HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

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Head Defect (BHD) *

Test number: 8465C

BHD

Breed
Burmese .
The Disease
A recessive mutation that causes a congenital craniofacial defect in Burmese cats has been identified by the Lyons Feline Genetics Research Laboratory at UC Davis.The mutation affects function of a gene significant for facial development.

Cats with one copy of the mutation will not have craniofacial defect but may produce a shortened facial structure (brachycephaly). Research is underway to determine if cats that have one copy or no copies of the mutation can be identified just by facial type. Two copies of the mutant allele can cause severe craniofacial defect that is severe enough to be compatible with life.

Trait of Inheritance
Autosomal recessive (see interpretation below)

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The cat is noncarrier of the mutant gene.

It is very unlikely that the cat will develop Head Defect (BHD) *. The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.

 

Carrier

Genotype: N / BHD [ Heterozygous ]

The cat carries one copy of the mutant gene and one copy of the normal gene.

Cats with one copy of the mutation will not have craniofacial defect but may produce a shortened facial structure (brachycephaly).

 

Affected

Genotype: BHD / BHD [ Homozygous mutant ]

 

The cat carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The cat is likely to develop Head Defect (BHD) * and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. .
Turnaround
4 - 5 weeks
Price
£ 48.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
HCM 1 (Hypertrophic cardiomyopathy ) Mutation Meurs (G-- > C) A31P  
Autoimmune Lymphoproliferative Syndrome (ALPS)  
HCM (Hypertrophic Cardiomyopathy)  
PKD (Feline Polycystic Kidney Disease)  
PK Deficiency (Pyruvate Kinase Deficiency)  
rdAc-PRA (Progressive Retinal Atrophy )  
Genetic Blood groups in cats  
SMA (Spinal Muscular Atrophy )  
Serological Evaluation of blood Groups  
Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)  
Alpha-Mannosidosis (AMD)  
Congenital Myasthenic Syndrome (CMS)  
Gangliosidosis GM1  
Gangliosidosis GM2  
Gangliosidosis GM2  
Mucopolysaccharidosis Type VI (MPS VI)  
Mucopolysaccharidosis type VII (MPS VII)  
Myotonia Congenita (Fainting Goat)  
pd - Progressive Retinal Atrophy (pd-PRA)  
Progressive Retinal Atrophy (rdy-PRA)  
HCM1 + PK Deficiency + SMA  
Hypotrichosis and Short Life Expectancy  
Bengal Progressive Retinal Atrophy (PRA-b) *  
Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups  
Osteochondrodysplasia (Scottish Fold Osteodystrophy)  
Primary Congenital Glaucoma (PCG)  
Cystinuria (Feline Cystinuria) (CY)  
Glycogen Storage Disease ( GSD ) Type IV  

 
 
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