Phenotypes associated with this allele

• Allele Symbol: Ildr1^{Gt(D178D03)Wrst}
• Allele Name: gene trap D178D03, German Gene Trap Consortium
• Allele ID: MGI:3893035
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ildr1^Gt(D178D03)Wrst/Ildr1^Gt(D178D03)Wrst	involves: 129S2/SvPas * C57BL/6J * Swiss Webster	MGI:5538389
hm2	Ildr1^Gt(D178D03)Wrst/Ildr1^Gt(D178D03)Wrst	involves: 129S2/SvPas * Swiss Webster	MGI:5695554
cx3	Ildr1^Gt(D178D03)Wrst/Ildr1^Gt(D178D03)Wrst Tg(Cck-EGFP)BJ203Gsat/0	involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster	MGI:5538390

Genotype
MGI:5538389

hm1

• Allelic Composition: Ildr1^{Gt(D178D03)Wrst}/Ildr1^{Gt(D178D03)Wrst}
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * Swiss Webster

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:201407 )

N • mice fed a lipid-rich meal exhibit normal increase in serum triglyceride levels indicating normal lipid absorption

abnormal circulating hormone level ( J:201407 )

• following fatty acid administration, mice fail to exhibit an increase in serum cholecystokinin (CCK) unlike wild-type mice

• however, administration of SBTI induces a normal increase in serum CCK

digestive/alimentary system

digestive/alimentary phenotype ( J:201407 )

N • mice fed a lipid-rich meal exhibit normal increase in serum triglyceride levels indicating normal lipid absorption

growth/size/body

growth/size/body region phenotype ( J:201407 )

N • mice fed standard chow or a high-fat diet exhibit normal growth

Genotype
MGI:5695554

hm2

• Allelic Composition: Ildr1^{Gt(D178D03)Wrst}/Ildr1^{Gt(D178D03)Wrst}
• Genetic Background: involves: 129S2/SvPas * Swiss Webster

hearing/vestibular/ear

abnormal inner ear morphology ( J:217755 )

• structure of tricellular tight junctions is abnormal in the inner ear

abnormal organ of Corti morphology ( J:217755 )

• areas lacking outer hair cells in the middle turn of the organ of Corti are populated only with supporting cells that often have enlarged or misshapen apical surfaces occupying the vacant outer hair cell space thus sealing the reticular lamina

abnormal cochlear hair cell morphology ( J:217755 )

• some hair cells have apical membrane distortions and missing stereocilia bundles

abnormal outer hair cell stereociliary bundle morphology ( J:217755 )

• at P13, degenerating outer hair cell stereocilia bundles exhibit partial loss of shorter-row stereocilia and fusion of stereocilia with the apical membrane of hair cells

cochlear inner hair cell degeneration ( J:217755 )

• inner hair cell degeneration progresses slowly with pronounced cell death at 2 months of age

• however, vestibular hair cells at 2 months of age are intact

cochlear outer hair cell degeneration ( J:217755 )

• mice exhibit rapid base-to-apex outer hair cell degeneration

• degeneration of outer hair cells is seen at P12 but not P11 and becomes prominent at P13-P15; degeneration occurs in a mosaic pattern and progresses rapidly until complete loss by 1 month of age

• loss of outer hair cells is more pronounced at the basal and middle turns of the cochlea compared with the apical turn

abnormal endocochlear potential ( J:217755 )

• the negative endocochlear potential in adult mice is smaller, however endocochlear potential is established and the positive endocochlear potential is maintained

increased or absent threshold for auditory brainstem response ( J:217755 )

• no measurable ABR responses are detected at the maximum level (90 dB peSPL) at 8 weeks of age

absent distortion product otoacoustic emissions ( J:217755 )

• DPOAEs are absent by the second postnatal week and mice have no responses at 4 and 8 weeks of age, indicating an early postnatal loss of outer hair cell function

deafness ( J:217755 )

• mice have severe hearing loss by the second postnatal week and by 8 weeks of age, hearing loss is profound

nervous system

abnormal cochlear hair cell morphology ( J:217755 )

• some hair cells have apical membrane distortions and missing stereocilia bundles

abnormal outer hair cell stereociliary bundle morphology ( J:217755 )

• at P13, degenerating outer hair cell stereocilia bundles exhibit partial loss of shorter-row stereocilia and fusion of stereocilia with the apical membrane of hair cells

cochlear inner hair cell degeneration ( J:217755 )

• inner hair cell degeneration progresses slowly with pronounced cell death at 2 months of age

• however, vestibular hair cells at 2 months of age are intact

cochlear outer hair cell degeneration ( J:217755 )

• mice exhibit rapid base-to-apex outer hair cell degeneration

• degeneration of outer hair cells is seen at P12 but not P11 and becomes prominent at P13-P15; degeneration occurs in a mosaic pattern and progresses rapidly until complete loss by 1 month of age

• loss of outer hair cells is more pronounced at the basal and middle turns of the cochlea compared with the apical turn

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 42		DOID:0110500	OMIM:609646	J:217755

Genotype
MGI:5538390

cx3

• Allelic Composition: Ildr1^{Gt(D178D03)Wrst}/Ildr1^{Gt(D178D03)Wrst}; Tg(Cck-EGFP)BJ203Gsat/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

digestive/alimentary system

abnormal intestinal epithelium morphology ( J:201407 )

• administration of HDL and C12 fails to induce increased intracellular calcium concentration in intestinal cells unlike wild-type mice

• however, intestinal cells respond normally to L-phenylalanine

homeostasis/metabolism

abnormal circulating hormone level ( J:201407 )

• following administration of C12 and chylomicrons fail to exhibit an increase in serum cholecystokinin (CCK) unlike wild-type mice

• however, administration of C12 and LDL or C12 and HDL induces increased serum CCK