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
preweaning lethality, incomplete penetrance Appbp2em1(IMPC)J HOM   Early adult 0.00
abnormal head morphology Appbp2em1(IMPC)J HET Early adult 4.12×10-06
abnormal coat/hair pigmentation Appbp2em1(IMPC)J HET Early adult 4.20×10-12
abnormal vocalization Appbp2em1(IMPC)J HET Early adult 2.41×10-10
abnormal snout morphology Appbp2em1(IMPC)J HET Early adult 8.07×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair, Short nose ORPHA:1355
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, Wide nasal bridge, White eyebrow, White eyelashes, Short... ORPHA:894
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... 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 the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Short nose, Fair hair, Blue irides OMIM:614613
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair 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
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Griscelli Syndrome Type 2
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79477
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair OMIM:618541
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... ORPHA:3322
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrh... ORPHA:238468
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411511
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Heterochromia iridis, Premature graying of... ORPHA:163746
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Wide nasal bridge ORPHA:96169
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Chediak-Higashi Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... OMIM:214500
Syndromic Diarrhea
Woolly hair, Brittle hair, Generalized hypopigmentation, Hypopigmentation of hair, Trichorrhexis ... ORPHA:84064
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98794
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Short nose, Widow's peak ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Short nose, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Vici Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Ocular albinism OMIM:242840
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Sho... ORPHA:177907
Prader-Willi Syndrome
Generalized hypopigmentation, Hypopigmentation of the skin, Frontal upsweep of hair, Hypopigmenta... OMIM:176270
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Wide nasal bridge ORPHA:398073
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Ch├ędiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypo... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177901
Degcags Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Hypopigmentation of the skin,... OMIM:619488
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology, Wide nasal bridge ORPHA:818
Acrodysostosis With Multiple Hormone Resistance
Red hair, Fair hair, Blue irides ORPHA:280651
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, 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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