TYR-transgenic mice display multiple autism-like behaviors, including deficits in social interaction and interest, abnormalities in pup and juvenile ultrasonic vocalization communications, and repetitive stereotypies (Hamilton et al., 2011).
Molecular Function
The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Multiple autism-like behaviors in a novel transgenic mouse model.
Mutant mice showed deficits in social interaction and interest, abnormalities in pup and juvenile ultrasonic vocalization communications, and exhibited a repetitive stereotypy. Abnormalities were also observed in the domain of sensory function.
References
Type
Title
Author, Year
Primary
Multiple autism-like behaviors in a novel transgenic mouse model.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Tyrosinase transgene with a 2.1kb promoter and sequence from the 5'-end of Moloney murine leukemia virus (MuLV) inserted into non-coding region of X chromosome.
Allele Type: Targeted (Transgene)
Strain of Origin: FVB/N
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Decreased social interaction indicated by less time engaged in active social interaction
Exp Paradigm: Three-cambered partition test; direct social interaction test-three-chamber social approach test
Description: Decreased social interaction indicated by less time engaged in active social interaction
Exp Paradigm: Three-cambered partition test; direct social interaction test- reciprocal social interaction test
Description: Decreased dydadic communication demonstrated by decreased total ultrasonic vocalization from mutant and wt mice pair
Exp Paradigm: Call latency towards unfamiliar mouse
