Gene Summary

Name:
amyloid beta precursor protein (cytoplasmic tail) binding protein 2
Synonyms:
PAT1,  1300003O07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Appbp2em1(IMPC)J HET Early adult 4.10×10-12
abnormal vocalization Appbp2em1(IMPC)J HET Early adult 2.37×10-10
preweaning lethality, incomplete penetrance Appbp2em1(IMPC)J HOM   Early adult 0.00
abnormal snout morphology Appbp2em1(IMPC)J HET Early adult 7.99×10-06
abnormal head morphology Appbp2em1(IMPC)J HET Early adult 4.09×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Appbp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Appbp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Waardenburg Syndrome, Type 2A
Partial albinism, Wide nasal bridge, Albinism, White eyelashes, Heterochromia iridis, White forel... OMIM:193510
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:607624
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Wide nasal bridge, Abnormal eyebrow morphology, White eyelas... ORPHA:897
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Piebaldism
Hypopigmented skin patches, Piebaldism, Wide nasal bridge, White eyelashes, Heterochromia iridis,... ORPHA:2884
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, Short nose, Wide nasal bridge, ... ORPHA:894
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... ORPHA:33445
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Short nose, Fair hair, Red hair OMIM:614613
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Wide nasal bridge, Abnormal eyebrow... ORPHA:3440
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature graying of hair ORPHA:79477
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots ORPHA:100
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613266
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... ORPHA:3214
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular hyperpigmen... ORPHA:238468
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411511
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Sparse scalp... ORPHA:3322
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Wide nasal bridge, Abnormal eyebrow morphology, Heterochromia iridis,... ORPHA:163746
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Koolen-De Vries Syndrome
Hypopigmentation of hair, Wide nasal bridge, Abnormality of hair texture ORPHA:96169
Chediak-Higashi Syndrome
Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigme... OMIM:214500
Syndromic Diarrhea
Brittle hair, Wide nasal bridge, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmenta... ORPHA:84064
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98794
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Short nose, Coarse hair, Widow's peak, Hypopigmentation of hair ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Short nose, Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... ORPHA:79430
Vici Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism OMIM:242840
Prader-Willi Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Frontal upsweep of... OMIM:176270
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hyperpigmentation of the skin, Short nose, Hypopigmentation of the skin, Iris hypo... ORPHA:177907
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Prader-Willi-Like Syndrome
Wide nasal bridge, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:398073
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Ch├ędiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Iris... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Degcags Syndrome
Hypertrichosis, Low anterior hairline, Abnormality of skin pigmentation, Short nose, Long eyelash... OMIM:619488
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177901
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Fair hair, Red hair ORPHA:280651
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... OMIM:219800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Appbp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Appbp2.

No publications found that use IMPC mice or data for Appbp2.

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MGI Allele Allele Type Produced
Appbp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Appbp2em1(IMPC)J Intra-exon deletion Mice

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