Lamp2<sup>em1</sup> (lysosomal-associated membrane protein 2; TALEN induced mutant1)

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Gene: Lamp2^em1 (lysosomal-associated membrane protein 2; TALEN induced mutant1) Rattus norvegicus

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Symbol:	Lamp2^em1
Name:	lysosomal-associated membrane protein 2; TALEN induced mutant1
RGD ID:	13703121
Description:	This mutation was generated by injecting TALEN targeting exon 2 of rat Lamp2 into SD embryos. The resulting mutation is a 2-bp deletion. ASSOCIATED WITH abnormal learning/memory/conditioning; abnormal locomotor behavior; abnormal mitophagy; ASSOCIATED WITH cholestasis; chronic conjunctivitis; cognitive disorder
Type:	allele of Lamp2
Is Marker For:	Strains: SD-Lamp2^em1
Latest Assembly:	mRatBN7.2 - mRatBN7.2 Assembly
Position:	No map positions available.

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

cholestasis (IMP)

chronic conjunctivitis (IMP)

cognitive disorder (IMP)

Danon disease (IMP)

hypertrophic cardiomyopathy (IMP)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal learning/memory/conditioning (IMP)

abnormal locomotor behavior (IMP)

abnormal mitophagy (IMP)

decreased b-wave amplitude (IMP)

increased circulating alkaline phosphatase level (IMP)

increased circulating aspartate transaminase level (IMP)

increased circulating cholesterol level (IMP)

increased circulating glucose level (IMP)

increased creatine kinase level (IMP)

increased heart weight (IMP)

intrahepatic cholestasis (IMP)

premature death (IMP)

slow postnatal weight gain (IMP)

thick interventricular septum (IMP)

thick ventricular wall (IMP)

References

References - curated

#	Reference Title	Reference Citation
1.	Characterisation of Lamp2-deficient rats for potential new animal model of Danon disease.	Ma S, etal., Sci Rep. 2018 May 2;8(1):6932. doi: 10.1038/s41598-018-24351-w.
2.	A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.	Wang L, etal., Clin Rev Allergy Immunol. 2017 Aug;53(1):105-116. doi: 10.1007/s12016-017-8598-3.

Genomics

Related Rat Strains

The following Strains have been annotated to Lamp2^em1

SD-Lamp2^em1

Expression

Sequence

Nucleotide Sequences

Additional Information

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-08-03	Lamp2^em1	lysosomal-associated membrane protein 2; TALEN induced mutant1	Lamp2^em1		Name changed	629549	APPROVED

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Mammalian Phenotype